Structural position:
- Domain Type: Ig
- Aligned Position: 169
- Secondary Structure Element: e
- Secondary Structure Region: β-strand G
SAVs
| SAV | Position (IC) | Domain | Position (Domain) | RS | AlphaMissense (IC) |
DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/I | 91 |
Ig-1 |
86 | rs1367815458 |
0.7851 | None | 1.0 | D | 0.881 | 0.517 | 0.795195521471 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.83(TCAP) | N | None | 0 | 0 | 0 | 0 | 1.92308E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/I | 91 |
Ig-1 |
86 | rs1367815458 |
0.7851 | None | 1.0 | D | 0.881 | 0.517 | 0.795195521471 | gnomAD-4.0.0 | 6.57186E-06 | None | None | None | -0.83(TCAP) | N | None | 0 | 0 | None | 0 | 1.92308E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | 91 |
Ig-1 |
86 | None | 0.6693 | None | 0.997 | D | 0.682 | 0.366 | 0.364926071151 | gnomAD-4.0.0 | 1.20038E-06 | None | None | None | -1.056(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31257E-06 | 0 | 0 |
| S/T | 91 |
Ig-1 |
86 | None | 0.2449 | None | 0.981 | N | 0.599 | 0.304 | 0.273070737957 | gnomAD-4.0.0 | 3.60113E-06 | None | None | None | -1.371(TCAP) | N | None | 1.26695E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| S/L | 187 |
Ig-2 |
84 | rs754029303 |
0.8119 | -0.222 | 1.0 | D | 0.831 | 0.546 | 0.768558824438 | gnomAD-2.1.1 | 1.06E-05 | None | None | None | -0.913(TCAP) | N | None | 4.01E-05 | 0 | None | 0 | 5.01E-05 | None | 0 | None | 0 | 7.75E-06 | 0 |
| S/L | 187 |
Ig-2 |
84 | rs754029303 |
0.8119 | -0.222 | 1.0 | D | 0.831 | 0.546 | 0.768558824438 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.913(TCAP) | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/L | 187 |
Ig-2 |
84 | rs754029303 |
0.8119 | -0.222 | 1.0 | D | 0.831 | 0.546 | 0.768558824438 | gnomAD-4.0.0 | 8.05453E-06 | None | None | None | -0.913(TCAP) | N | None | 1.33543E-05 | 0 | None | 0 | 8.91027E-05 | None | 0 | 3.28731E-04 | 4.23727E-06 | 0 | 1.60041E-05 |
| T/A | 1026 |
Ig-3 |
84 | rs2092899291 |
0.4089 | None | 0.999 | N | 0.601 | 0.399 | 0.294561560033 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| T/A | 1026 |
Ig-3 |
84 | rs2092899291 |
0.4089 | None | 0.999 | N | 0.601 | 0.399 | 0.294561560033 | gnomAD-4.0.0 | 6.56953E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| T/I | 1026 |
Ig-3 |
84 | rs1231552005 |
0.9405 | -0.34 | 1.0 | N | 0.84 | 0.54 | 0.637328616101 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.85E-06 | 0 |
| T/I | 1026 |
Ig-3 |
84 | rs1231552005 |
0.9405 | -0.34 | 1.0 | N | 0.84 | 0.54 | 0.637328616101 | gnomAD-4.0.0 | 2.60101E-05 | None | None | None | None | I | None | 2.989E-05 | 0 | None | 0 | 0 | None | 1.87238E-05 | 0 | 3.14794E-05 | 1.16007E-05 | 0 |
| A/T | 1167 |
Ig-4 |
86 | rs1248484876 |
0.1936 | None | 0.946 | N | 0.735 | 0.429 | 0.349870743963 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | 1167 |
Ig-4 |
86 | rs1248484876 |
0.1936 | None | 0.946 | N | 0.735 | 0.429 | 0.349870743963 | gnomAD-4.0.0 | 6.57125E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46985E-05 | 0 | 0 |
| I/M | 1541 |
Ig-6 |
85 | None | 0.153 | None | 0.984 | N | 0.6 | 0.349 | 0.531629458225 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| I/T | 1541 |
Ig-6 |
85 | rs1293333289 |
0.3404 | -1.04 | 0.896 | N | 0.566 | 0.533 | 0.703335290885 | gnomAD-2.1.1 | 4E-06 | None | None | None | None | I | None | 6.19E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/T | 1541 |
Ig-6 |
85 | rs1293333289 |
0.3404 | -1.04 | 0.896 | N | 0.566 | 0.533 | 0.703335290885 | gnomAD-4.0.0 | 3.18263E-06 | None | None | None | None | I | None | 1.13122E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | 1641 |
Ig-7 |
86 | rs775394529 |
0.8338 | 0.076 | 1.0 | N | 0.885 | 0.673 | 0.48896698758 | gnomAD-2.1.1 | 7.99E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.84E-06 | 0 |
| T/I | 1641 |
Ig-7 |
86 | rs775394529 |
0.8338 | 0.076 | 1.0 | N | 0.885 | 0.673 | 0.48896698758 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | 1641 |
Ig-7 |
86 | rs775394529 |
0.8338 | 0.076 | 1.0 | N | 0.885 | 0.673 | 0.48896698758 | gnomAD-4.0.0 | 7.43667E-06 | None | None | None | None | N | None | 0 | 1.66845E-05 | None | 0 | 0 | None | 0 | 0 | 9.32263E-06 | 0 | 0 |
| T/I | 1788 |
Ig-8 |
86 | rs760787459 |
0.8636 | 0.258 | 1.0 | D | 0.879 | 0.531 | 0.602907052046 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.83E-06 | 0 |
| T/I | 1788 |
Ig-8 |
86 | rs760787459 |
0.8636 | 0.258 | 1.0 | D | 0.879 | 0.531 | 0.602907052046 | gnomAD-4.0.0 | 4.12045E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.03931E-05 | None | 0 | 0 | 3.59729E-06 | 0 | 0 |
| H/Q | 1923 |
Ig-9 |
83 | None | 0.3693 | None | 1.0 | N | 0.742 | 0.354 | 0.37550373646 | gnomAD-4.0.0 | 1.36814E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7986E-06 | 0 | 0 |
| H/R | 1923 |
Ig-9 |
83 | None | 0.3527 | None | 1.0 | N | 0.698 | 0.616 | 0.425148423609 | gnomAD-4.0.0 | 3.18103E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86541E-05 | 0 |
| H/Y | 1923 |
Ig-9 |
83 | None | 0.1862 | None | 0.999 | N | 0.577 | 0.591 | 0.384419519794 | gnomAD-4.0.0 | 1.59051E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85656E-06 | 0 | 0 |
| S/R | 2162 |
Ig-10 |
85 | rs2092105586 |
0.9969 | None | 1.0 | D | 0.874 | 0.609 | 0.445107144611 | gnomAD-4.0.0 | 8.40225E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.18751E-06 | 0 | 0 |
| S/T | 2162 |
Ig-10 |
85 | None | 0.3013 | None | 0.999 | N | 0.604 | 0.348 | 0.355450299083 | gnomAD-4.0.0 | 1.59064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77485E-05 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | 2256 |
Ig-11 |
83 | rs1385805778 |
0.3971 | -1.225 | 0.981 | N | 0.579 | 0.281 | 0.279776271856 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/M | 2256 |
Ig-11 |
83 | rs780758720 |
0.4997 | -0.213 | 1.0 | D | 0.834 | 0.548 | None | gnomAD-2.1.1 | 1.77E-05 | None | None | None | None | N | None | 0 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 3.11E-05 | 0 |
| T/M | 2256 |
Ig-11 |
83 | rs780758720 |
0.4997 | -0.213 | 1.0 | D | 0.834 | 0.548 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| T/M | 2256 |
Ig-11 |
83 | rs780758720 |
0.4997 | -0.213 | 1.0 | D | 0.834 | 0.548 | None | gnomAD-4.0.0 | 2.72676E-05 | None | None | None | None | N | None | 0 | 1.66728E-05 | None | 0 | 2.23045E-05 | None | 0 | 0 | 3.05114E-05 | 0 | 9.6043E-05 |
| T/A | 2345 |
Ig-12 |
79 | None | 0.2294 | None | 0.999 | N | 0.574 | 0.305 | 0.126345400529 | gnomAD-4.0.0 | 6.15683E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.0938E-06 | 0 | 0 |
| T/I | 2345 |
Ig-12 |
79 | rs1273542789 |
0.7145 | 0.124 | 1.0 | N | 0.783 | 0.534 | 0.28798054836 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.81E-06 | 0 |
| T/I | 2345 |
Ig-12 |
79 | rs1273542789 |
0.7145 | 0.124 | 1.0 | N | 0.783 | 0.534 | 0.28798054836 | gnomAD-4.0.0 | 1.59063E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8567E-06 | 0 | 0 |
| T/S | 2345 |
Ig-12 |
79 | rs1336710526 |
0.2084 | -1.136 | 0.999 | N | 0.55 | 0.243 | 0.0954503805726 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/S | 2345 |
Ig-12 |
79 | rs1336710526 |
0.2084 | -1.136 | 0.999 | N | 0.55 | 0.243 | 0.0954503805726 | gnomAD-4.0.0 | 1.36818E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 1.65579E-05 |
| S/T | 2437 |
Ig-13 |
82 | None | 0.0624 | None | None | N | 0.227 | 0.067 | 0.162503812791 | gnomAD-4.0.0 | 1.59061E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85665E-06 | 0 | 0 |
| T/S | 2524 |
Ig-14 |
80 | rs797046067 |
0.1802 | -1.61 | 0.996 | N | 0.569 | 0.376 | 0.126345400529 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 6.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/S | 2524 |
Ig-14 |
80 | rs797046067 |
0.1802 | -1.61 | 0.996 | N | 0.569 | 0.376 | 0.126345400529 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | 2524 |
Ig-14 |
80 | rs797046067 |
0.1802 | -1.61 | 0.996 | N | 0.569 | 0.376 | 0.126345400529 | gnomAD-4.0.0 | 2.56143E-06 | None | None | None | None | N | None | 3.38158E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/G | 2873 |
Ig-18 |
79 | None | 0.4829 | None | 0.669 | D | 0.741 | 0.432 | 0.809333530915 | gnomAD-4.0.0 | 2.05218E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69787E-06 | 0 | 0 |
| S/T | 3047 |
Ig-20 |
79 | rs946142615 |
0.1918 | -0.406 | 0.044 | N | 0.341 | 0.188 | 0.183819452728 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 0 |
| S/T | 3047 |
Ig-20 |
79 | rs946142615 |
0.1918 | -0.406 | 0.044 | N | 0.341 | 0.188 | 0.183819452728 | gnomAD-4.0.0 | 8.20963E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.07917E-05 | 0 | 0 |
| S/C | 3227 |
Ig-22 |
81 | rs886042755 |
0.3785 | 0.087 | 1.0 | N | 0.811 | 0.397 | 0.209622950755 | gnomAD-2.1.1 | 7.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.75E-06 | 1.38658E-04 |
| S/C | 3227 |
Ig-22 |
81 | rs886042755 |
0.3785 | 0.087 | 1.0 | N | 0.811 | 0.397 | 0.209622950755 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| S/C | 3227 |
Ig-22 |
81 | rs886042755 |
0.3785 | 0.087 | 1.0 | N | 0.811 | 0.397 | 0.209622950755 | gnomAD-4.0.0 | 1.48725E-05 | None | None | None | None | N | None | 1.33476E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.94953E-05 | 0 | 0 |
| S/N | 3227 |
Ig-22 |
81 | None | 0.6876 | None | 0.999 | N | 0.575 | 0.257 | 0.144782658237 | gnomAD-4.0.0 | 1.59059E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8566E-06 | 0 | 0 |
| T/A | 3322 |
Ig-23 |
84 | rs750311932 |
0.098 | -1.138 | 0.454 | N | 0.52 | 0.207 | 0.250039746154 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.85E-06 | 0 |
| T/A | 3322 |
Ig-23 |
84 | rs750311932 |
0.098 | -1.138 | 0.454 | N | 0.52 | 0.207 | 0.250039746154 | gnomAD-4.0.0 | 1.59057E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85647E-06 | 0 | 0 |
| S/N | 3427 |
Ig-24 |
83 | rs368333336 |
0.5043 | -0.461 | 0.961 | D | 0.715 | 0.376 | None | gnomAD-2.1.1 | 1.06E-05 | None | None | None | None | N | None | 1.20154E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/N | 3427 |
Ig-24 |
83 | rs368333336 |
0.5043 | -0.461 | 0.961 | D | 0.715 | 0.376 | None | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 1.4476E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | 3427 |
Ig-24 |
83 | rs368333336 |
0.5043 | -0.461 | 0.961 | D | 0.715 | 0.376 | None | gnomAD-4.0.0 | 8.05505E-06 | None | None | None | None | N | None | 1.73514E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | 3427 |
Ig-24 |
83 | rs368333336 |
0.1426 | None | 0.801 | N | 0.65 | 0.259 | 0.242825505644 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | 3427 |
Ig-24 |
83 | rs368333336 |
0.1426 | None | 0.801 | N | 0.65 | 0.259 | 0.242825505644 | gnomAD-4.0.0 | 6.57151E-06 | None | None | None | None | N | None | 0 | 6.54365E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | 3743 |
Ig-26 |
84 | rs769955914 |
0.1055 | -1.13 | None | None | None | 0.058 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| T/A | 3743 |
Ig-26 |
84 | rs769955914 |
0.1055 | -1.13 | None | None | None | 0.058 | None | gnomAD-4.0.0 | 1.59481E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.775E-05 | None | 0 | 0 | 0 | 0 | 0 |
| T/M | 3743 |
Ig-26 |
84 | rs368071705 |
0.2378 | -0.139 | None | None | None | 0.132 | None | gnomAD-2.1.1 | 2.86E-05 | None | None | None | None | I | None | 0 | 2.83E-05 | None | 0 | 5.12E-05 | None | 9.82E-05 | None | 0 | 1.56E-05 | 1.40766E-04 |
| T/M | 3743 |
Ig-26 |
84 | rs368071705 |
0.2378 | -0.139 | None | None | None | 0.132 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 2.41E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/M | 3743 |
Ig-26 |
84 | rs368071705 |
0.2378 | -0.139 | None | None | None | 0.132 | None | gnomAD-4.0.0 | 1.9851E-05 | None | None | None | None | I | None | 2.67044E-05 | 3.33456E-05 | None | 0 | 0 | None | 0 | 0 | 9.33406E-06 | 1.7582E-04 | 1.60226E-05 |
| T/R | 3743 |
Ig-26 |
84 | None | 0.5568 | None | None | None | None | 0.169 | None | gnomAD-4.0.0 | 6.85015E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00544E-07 | 0 | 0 |
| C/R | 3903 |
Ig-27 |
84 | None | 0.6926 | None | 0.901 | N | 0.881 | 0.457 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| C/W | 4022 |
Ig-28 |
85 | rs931245340 |
0.6187 | None | 0.915 | D | 0.726 | 0.382 | None | gnomAD-4.0.0 | 3.42177E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 5.20472E-04 | 1.79887E-06 | 0 | 0 |
| C/Y | 4022 |
Ig-28 |
85 | rs2082415134 |
0.3597 | None | 0.484 | D | 0.736 | 0.242 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| C/Y | 4022 |
Ig-28 |
85 | rs2082415134 |
0.3597 | None | 0.484 | D | 0.736 | 0.242 | None | gnomAD-4.0.0 | 6.57281E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| C/S | 4783 |
Ig-30 |
84 | rs748913179 |
0.2041 | -1.46 | 0.046 | N | 0.478 | 0.258 | 0.547384771329 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| C/S | 4783 |
Ig-30 |
84 | rs748913179 |
0.2041 | -1.46 | 0.046 | N | 0.478 | 0.258 | 0.547384771329 | gnomAD-4.0.0 | 1.59194E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4332E-05 | 0 |
| C/R | 4878 |
Ig-31 |
84 | rs1420951928 |
0.9259 | -1.322 | 0.994 | N | 0.8 | 0.574 | 0.831880704496 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/R | 4878 |
Ig-31 |
84 | rs1420951928 |
0.9259 | -1.322 | 0.994 | N | 0.8 | 0.574 | 0.831880704496 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/R | 4878 |
Ig-31 |
84 | rs1420951928 |
0.9259 | -1.322 | 0.994 | N | 0.8 | 0.574 | 0.831880704496 | gnomAD-4.0.0 | 2.56232E-06 | None | None | None | None | N | None | 0 | 3.3896E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | 4878 |
Ig-31 |
84 | rs546830236 |
0.8555 | -1.487 | 0.976 | D | 0.777 | 0.472 | 0.818028209021 | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.28803E-04 | None | 0 | 0 | 0 |
| C/Y | 4878 |
Ig-31 |
84 | rs546830236 |
0.8555 | -1.487 | 0.976 | D | 0.777 | 0.472 | 0.818028209021 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| C/Y | 4878 |
Ig-31 |
84 | rs546830236 |
0.8555 | -1.487 | 0.976 | D | 0.777 | 0.472 | 0.818028209021 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| C/Y | 4878 |
Ig-31 |
84 | rs546830236 |
0.8555 | -1.487 | 0.976 | D | 0.777 | 0.472 | 0.818028209021 | gnomAD-4.0.0 | 8.05603E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.20784E-04 | 3.20205E-05 |
| C/G | 4971 |
Ig-32 |
84 | rs537312655 |
0.0873 | -2.55 | 0.012 | D | 0.724 | 0.121 | 0.507628581994 | gnomAD-2.1.1 | 3.97851E-04 | None | None | None | None | N | None | 0 | 2.67035E-03 | None | 0 | 0 | None | 0 | None | 0 | 3.26E-05 | 2.11416E-03 |
| C/G | 4971 |
Ig-32 |
84 | rs537312655 |
0.0873 | -2.55 | 0.012 | D | 0.724 | 0.121 | 0.507628581994 | gnomAD-3.1.2 | 4.13929E-04 | None | None | None | None | N | None | 0 | 3.99424E-03 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| C/G | 4971 |
Ig-32 |
84 | rs537312655 |
0.0873 | -2.55 | 0.012 | D | 0.724 | 0.121 | 0.507628581994 | gnomAD-4.0.0 | 1.16669E-04 | None | None | None | None | N | None | 0 | 2.8678E-03 | None | 0 | 0 | None | 0 | 0 | 1.19448E-05 | 0 | 1.46294E-04 |
| S/C | 5251 |
Ig-35 |
84 | rs770408836 |
0.0732 | -0.085 | 0.005 | N | 0.401 | 0.226 | 0.354610295913 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| S/C | 5251 |
Ig-35 |
84 | rs770408836 |
0.0732 | -0.085 | 0.005 | N | 0.401 | 0.226 | 0.354610295913 | gnomAD-4.0.0 | 1.59477E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86727E-06 | 0 | 0 |
| C/R | 5344 |
Ig-36 |
84 | None | 0.4577 | None | 1.0 | N | 0.907 | 0.628 | 0.874387943856 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| C/Y | 5344 |
Ig-36 |
84 | None | 0.4228 | None | 1.0 | N | 0.906 | 0.401 | 0.806643597941 | gnomAD-4.0.0 | 1.60987E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4596E-05 | 0 |
| C/F | 5533 |
Ig-38 |
84 | None | 0.3754 | None | 0.484 | D | 0.773 | 0.353 | 0.683392867763 | gnomAD-4.0.0 | 1.59869E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87305E-06 | 0 | 0 |
| C/R | 5627 |
Ig-39 |
85 | rs779925659 |
0.7863 | -1.684 | 1.0 | N | 0.921 | 0.503 | 0.776795415703 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| C/R | 5627 |
Ig-39 |
85 | rs779925659 |
0.7863 | -1.684 | 1.0 | N | 0.921 | 0.503 | 0.776795415703 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/R | 5627 |
Ig-39 |
85 | rs779925659 |
0.7863 | -1.684 | 1.0 | N | 0.921 | 0.503 | 0.776795415703 | gnomAD-4.0.0 | 3.72368E-06 | None | None | None | None | N | None | 4.00555E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54646E-06 | 0 | 0 |
| C/G | 5720 |
Ig-40 |
84 | rs748067586 |
0.2286 | -2.114 | 0.03 | N | 0.564 | 0.259 | 0.733364837216 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.31053E-04 | None | 0 | 0 | 0 |
| C/G | 5720 |
Ig-40 |
84 | rs748067586 |
0.2286 | -2.114 | 0.03 | N | 0.564 | 0.259 | 0.733364837216 | gnomAD-4.0.0 | 4.7942E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.9625E-05 | 1.6581E-05 |
| C/R | 5813 |
Ig-41 |
84 | None | 0.9199 | None | 0.997 | N | 0.876 | 0.556 | 0.849943191251 | gnomAD-4.0.0 | 6.8422E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15939E-05 | 0 |
| C/S | 5813 |
Ig-41 |
84 | rs368692616 |
0.388 | -1.735 | 0.659 | N | 0.535 | 0.423 | 0.821230280795 | gnomAD-2.1.1 | 2.86E-05 | None | None | None | None | N | None | 2.89304E-04 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| C/S | 5813 |
Ig-41 |
84 | rs368692616 |
0.388 | -1.735 | 0.659 | N | 0.535 | 0.423 | 0.821230280795 | gnomAD-3.1.2 | 8.54E-05 | None | None | None | None | N | None | 3.13616E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/S | 5813 |
Ig-41 |
84 | rs368692616 |
0.388 | -1.735 | 0.659 | N | 0.535 | 0.423 | 0.821230280795 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| C/S | 5813 |
Ig-41 |
84 | rs368692616 |
0.388 | -1.735 | 0.659 | N | 0.535 | 0.423 | 0.821230280795 | gnomAD-4.0.0 | 1.73503E-05 | None | None | None | None | N | None | 3.46491E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.09806E-05 | 1.60051E-05 |
| C/F | 5906 |
Ig-42 |
84 | rs1239818599 |
0.4667 | -1.215 | 0.997 | N | 0.819 | 0.473 | 0.832531937271 | gnomAD-2.1.1 | 8.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.38E-05 | None | 0 | 8.99E-06 | 0 |
| C/F | 5906 |
Ig-42 |
84 | rs1239818599 |
0.4667 | -1.215 | 0.997 | N | 0.819 | 0.473 | 0.832531937271 | gnomAD-4.0.0 | 2.74728E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70626E-06 | 1.1731E-05 | 0 |
| C/S | 5906 |
Ig-42 |
84 | None | 0.2568 | None | 0.99 | N | 0.759 | 0.567 | 0.677216412824 | gnomAD-4.0.0 | 1.60327E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.88191E-06 | 0 | 0 |
| C/Y | 5906 |
Ig-42 |
84 | rs1239818599 |
0.648 | None | 0.994 | N | 0.821 | 0.444 | 0.798155654027 | gnomAD-4.0.0 | 6.86819E-07 | None | None | None | None | N | None | 3.0012E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/F | 6002 |
Ig-43 |
84 | rs1415040904 |
0.7524 | None | 0.997 | N | 0.768 | 0.409 | 0.836788012211 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/F | 6002 |
Ig-43 |
84 | rs1415040904 |
0.7524 | None | 0.997 | N | 0.768 | 0.409 | 0.836788012211 | gnomAD-4.0.0 | 1.86158E-06 | None | None | None | None | N | None | 2.67101E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60416E-05 |
| C/Y | 6002 |
Ig-43 |
84 | None | 0.8886 | None | 0.994 | N | 0.777 | 0.432 | 0.806131679925 | gnomAD-4.0.0 | 6.85234E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52385E-05 | None | 0 | 0 | 0 | 0 | 0 |
| S/I | 6095 |
Ig-44 |
84 | None | 0.2674 | None | 0.029 | N | 0.691 | 0.225 | 0.594903367923 | gnomAD-4.0.0 | 7.34788E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.53854E-07 | 0 | 0 |
| S/N | 6095 |
Ig-44 |
84 | None | 0.2465 | None | 0.055 | N | 0.565 | 0.247 | 0.220303561663 | gnomAD-4.0.0 | 2.93915E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.81542E-06 | 0 | 0 |
| C/F | 6282 |
Ig-46 |
84 | rs2079961331 |
0.4053 | None | 0.484 | N | 0.82 | 0.339 | 0.764433835033 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/F | 6282 |
Ig-46 |
84 | rs2079961331 |
0.4053 | None | 0.484 | N | 0.82 | 0.339 | 0.764433835033 | gnomAD-4.0.0 | 2.0299E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40987E-06 | 0 | 0 |
| C/R | 6282 |
Ig-46 |
84 | None | 0.686 | None | 0.317 | D | 0.835 | 0.301 | 0.649823028507 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| C/G | 6375 |
Ig-47 |
84 | None | 0.2421 | None | 0.98 | N | 0.787 | 0.587 | 0.876617020153 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| C/S | 6468 |
Ig-48 |
84 | rs776818687 |
0.37 | -1.571 | 1.0 | N | 0.811 | 0.538 | 0.728107646935 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 2.92E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/S | 6468 |
Ig-48 |
84 | rs776818687 |
0.37 | -1.571 | 1.0 | N | 0.811 | 0.538 | 0.728107646935 | gnomAD-4.0.0 | 3.19324E-06 | None | None | None | None | N | None | 0 | 2.29589E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43823E-05 | 0 |
| C/F | 6564 |
Ig-49 |
84 | None | 0.5381 | None | 0.998 | N | 0.775 | 0.471 | 0.781870579539 | gnomAD-4.0.0 | 6.93134E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.20989E-05 | 0 |
| C/F | 6657 |
Ig-50 |
84 | rs776748717 |
0.3659 | -1.532 | 1.0 | N | 0.874 | 0.461 | 0.843383936846 | gnomAD-2.1.1 | 7.6E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.04471E-04 | None | 0 | None | 0 | 0 | 0 |
| C/F | 6657 |
Ig-50 |
84 | rs776748717 |
0.3659 | -1.532 | 1.0 | N | 0.874 | 0.461 | 0.843383936846 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93199E-04 | None | 0 | 0 | 0 | 0 | 0 |
| C/F | 6657 |
Ig-50 |
84 | rs776748717 |
0.3659 | -1.532 | 1.0 | N | 0.874 | 0.461 | 0.843383936846 | gnomAD-4.0.0 | 2.51707E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.48189E-05 | None | 0 | 0 | 0 | 0 | 3.25489E-05 |
| C/Y | 6657 |
Ig-50 |
84 | None | 0.6197 | None | 1.0 | D | 0.874 | 0.47 | 0.807364678773 | gnomAD-4.0.0 | 1.3917E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.81817E-06 | 0 | 0 |
| C/W | 6844 |
Ig-52 |
84 | None | 0.8574 | None | 1.0 | N | 0.745 | 0.486 | 0.716924671941 | gnomAD-4.0.0 | 1.61345E-06 | None | None | None | None | N | None | 0 | 2.31932E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/D | 6938 |
Ig-53 |
85 | None | 0.2392 | None | 0.081 | N | 0.444 | 0.128 | 0.201204373187 | gnomAD-4.0.0 | 1.65252E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.53827E-05 | 0 |
| N/Y | 6938 |
Ig-53 |
85 | rs769865946 |
0.1706 | 0.055 | 0.602 | N | 0.611 | 0.275 | 0.609517086792 | gnomAD-2.1.1 | 4.46E-06 | None | None | None | None | N | None | 6.85E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/Y | 6938 |
Ig-53 |
85 | rs769865946 |
0.1706 | 0.055 | 0.602 | N | 0.611 | 0.275 | 0.609517086792 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/Y | 6938 |
Ig-53 |
85 | rs769865946 |
0.1706 | 0.055 | 0.602 | N | 0.611 | 0.275 | 0.609517086792 | gnomAD-4.0.0 | 6.57065E-06 | None | None | None | None | N | None | 2.41208E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | 7031 |
Ig-54 |
84 | rs1312705676 |
0.7167 | -1.393 | 1.0 | N | 0.879 | 0.426 | 0.789026292194 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| C/Y | 7031 |
Ig-54 |
84 | rs1312705676 |
0.7167 | -1.393 | 1.0 | N | 0.879 | 0.426 | 0.789026292194 | gnomAD-4.0.0 | 1.59275E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77654E-05 | None | 0 | 0 | 0 | 0 | 0 |
| C/R | 7127 |
Ig-55 |
84 | None | 0.9374 | None | 0.028 | N | 0.675 | 0.315 | 0.742840689568 | gnomAD-4.0.0 | 1.44039E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.575E-05 | 0 | 0 |
| C/Y | 7220 |
Ig-56 |
84 | None | 0.5197 | None | 1.0 | N | 0.877 | 0.439 | 0.809519752258 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| C/Y | 7313 |
Ig-57 |
84 | None | 0.7955 | None | 0.983 | N | 0.817 | 0.382 | 0.793123502946 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| S/F | 7406 |
Ig-58 |
84 | rs2078615661 |
0.4535 | None | 0.999 | N | 0.773 | 0.44 | 0.736902561017 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | 7406 |
Ig-58 |
84 | rs2078615661 |
0.4535 | None | 0.999 | N | 0.773 | 0.44 | 0.736902561017 | gnomAD-4.0.0 | 6.57402E-06 | None | None | None | None | N | None | 0 | 6.54793E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/P | 7406 |
Ig-58 |
84 | rs371525576 |
0.8931 | None | 0.997 | D | 0.76 | 0.563 | None | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| S/P | 7406 |
Ig-58 |
84 | rs371525576 |
0.8931 | None | 0.997 | D | 0.76 | 0.563 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| S/P | 7406 |
Ig-58 |
84 | rs371525576 |
0.8931 | None | 0.997 | D | 0.76 | 0.563 | None | gnomAD-4.0.0 | 5.13246E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.58722E-06 | 0 | 0 |
| C/S | 7598 |
Ig-60 |
84 | rs1316768329 |
0.409 | -2.287 | 1.0 | N | 0.817 | 0.451 | 0.68100823904 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/S | 7598 |
Ig-60 |
84 | rs1316768329 |
0.409 | -2.287 | 1.0 | N | 0.817 | 0.451 | 0.68100823904 | gnomAD-4.0.0 | 1.59652E-06 | None | None | None | None | N | None | 0 | 2.29137E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/R | 7785 |
Ig-62 |
84 | rs371090975 |
0.943 | -1.417 | 1.0 | D | 0.857 | 0.584 | None | gnomAD-2.1.1 | 5.37E-05 | None | None | None | None | N | None | 6.20245E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/R | 7785 |
Ig-62 |
84 | rs371090975 |
0.943 | -1.417 | 1.0 | D | 0.857 | 0.584 | None | gnomAD-3.1.2 | 1.64253E-04 | None | None | None | None | N | None | 5.54671E-04 | 1.30907E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/R | 7785 |
Ig-62 |
84 | rs371090975 |
0.943 | -1.417 | 1.0 | D | 0.857 | 0.584 | None | 1000 genomes | 1.19808E-03 | None | None | None | None | N | None | 4.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| C/R | 7785 |
Ig-62 |
84 | rs371090975 |
0.943 | -1.417 | 1.0 | D | 0.857 | 0.584 | None | gnomAD-4.0.0 | 3.03775E-05 | None | None | None | None | N | None | 5.3349E-04 | 3.33667E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.12111E-04 |
| C/Y | 7785 |
Ig-62 |
84 | rs1315544282 |
0.8835 | -1.931 | 1.0 | N | 0.823 | 0.422 | 0.803992643394 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| C/Y | 7785 |
Ig-62 |
84 | rs1315544282 |
0.8835 | -1.931 | 1.0 | N | 0.823 | 0.422 | 0.803992643394 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| C/Y | 7785 |
Ig-62 |
84 | rs1315544282 |
0.8835 | -1.931 | 1.0 | N | 0.823 | 0.422 | 0.803992643394 | gnomAD-4.0.0 | 3.10018E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.2397E-06 | 0 | 0 |
| C/F | 7879 |
Ig-63 |
85 | None | 0.5955 | None | 1.0 | N | 0.905 | 0.478 | 0.830345050807 | gnomAD-4.0.0 | 1.59794E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8703E-06 | 0 | 0 |
| C/W | 7879 |
Ig-63 |
85 | rs756600411 |
0.9022 | -1.451 | 1.0 | N | 0.879 | 0.498 | 0.715633265667 | gnomAD-2.1.1 | 1.63E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.32196E-04 | None | 0 | 0 | 0 |
| C/W | 7879 |
Ig-63 |
85 | rs756600411 |
0.9022 | -1.451 | 1.0 | N | 0.879 | 0.498 | 0.715633265667 | gnomAD-4.0.0 | 1.27795E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15128E-04 | 0 |
| C/Y | 7879 |
Ig-63 |
85 | rs2078102033 |
0.733 | None | 1.0 | N | 0.904 | 0.467 | 0.793556179545 | gnomAD-4.0.0 | 1.59794E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8703E-06 | 0 | 0 |
| C/Y | 7972 |
Ig-64 |
84 | rs376354376 |
0.7335 | -1.66 | 0.999 | N | 0.807 | 0.426 | 0.825124570899 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| C/Y | 7972 |
Ig-64 |
84 | rs376354376 |
0.7335 | -1.66 | 0.999 | N | 0.807 | 0.426 | 0.825124570899 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
| C/Y | 7972 |
Ig-64 |
84 | rs376354376 |
0.7335 | -1.66 | 0.999 | N | 0.807 | 0.426 | 0.825124570899 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| C/Y | 7972 |
Ig-64 |
84 | rs376354376 |
0.7335 | -1.66 | 0.999 | N | 0.807 | 0.426 | 0.825124570899 | gnomAD-4.0.0 | 3.72528E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.4609E-05 | None | 0 | 0 | 0 | 4.40927E-05 | 0 |
| C/Y | 8068 |
Ig-65 |
84 | None | 0.5326 | None | 0.484 | N | 0.785 | 0.28 | 0.772923806147 | gnomAD-4.0.0 | 1.59219E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77331E-05 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | 8161 |
Ig-66 |
84 | rs372143487 |
0.5692 | -1.34 | 0.994 | N | 0.822 | 0.441 | None | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| C/Y | 8161 |
Ig-66 |
84 | rs372143487 |
0.5692 | -1.34 | 0.994 | N | 0.822 | 0.441 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| C/Y | 8161 |
Ig-66 |
84 | rs372143487 |
0.5692 | -1.34 | 0.994 | N | 0.822 | 0.441 | None | gnomAD-4.0.0 | 1.48737E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.94964E-05 | 1.09803E-05 | 0 |
| C/G | 8254 |
Ig-67 |
84 | None | 0.4443 | None | 0.959 | N | 0.746 | 0.466 | 0.85755753267 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| C/S | 8254 |
Ig-67 |
84 | rs776063057 |
0.3864 | -1.772 | 0.476 | N | 0.548 | 0.226 | 0.670872402834 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| C/S | 8254 |
Ig-67 |
84 | rs776063057 |
0.3864 | -1.772 | 0.476 | N | 0.548 | 0.226 | 0.670872402834 | gnomAD-4.0.0 | 7.5276E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99609E-06 | 0 | 1.65667E-05 |
| S/P | 8347 |
Ig-68 |
84 | rs1345180729 |
0.9683 | -0.261 | 0.917 | D | 0.801 | 0.427 | 0.404034981753 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| S/P | 8347 |
Ig-68 |
84 | rs1345180729 |
0.9683 | -0.261 | 0.917 | D | 0.801 | 0.427 | 0.404034981753 | gnomAD-4.0.0 | 1.59401E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77485E-05 | None | 0 | 0 | 0 | 0 | 0 |
| S/A | 8443 |
Ig-69 |
84 | rs753445241 |
0.1825 | -0.844 | 0.002 | N | 0.233 | 0.158 | 0.20549828249 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.32E-05 | None | 0 | 0 | 0 |
| S/A | 8443 |
Ig-69 |
84 | rs753445241 |
0.1825 | -0.844 | 0.002 | N | 0.233 | 0.158 | 0.20549828249 | gnomAD-4.0.0 | 6.86063E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16648E-05 | 0 |
| S/T | 8443 |
Ig-69 |
84 | None | 0.1377 | None | 0.034 | N | 0.257 | 0.184 | 0.21737058555 | gnomAD-4.0.0 | 1.37213E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80278E-06 | 0 | 0 |
| C/F | 8539 |
Ig-70 |
84 | rs550882549 |
0.6247 | -1.518 | 1.0 | D | 0.907 | 0.502 | 0.83096366775 | gnomAD-2.1.1 | 2.21785E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.13E-05 | None | 1.93164E-03 | None | 0 | 7.83E-06 | 1.41004E-04 |
| C/F | 8539 |
Ig-70 |
84 | rs550882549 |
0.6247 | -1.518 | 1.0 | D | 0.907 | 0.502 | 0.83096366775 | gnomAD-3.1.2 | 6.57E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-03 | 0 |
| C/F | 8539 |
Ig-70 |
84 | rs550882549 |
0.6247 | -1.518 | 1.0 | D | 0.907 | 0.502 | 0.83096366775 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| C/F | 8539 |
Ig-70 |
84 | rs550882549 |
0.6247 | -1.518 | 1.0 | D | 0.907 | 0.502 | 0.83096366775 | gnomAD-4.0.0 | 1.20885E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.22985E-05 | None | 0 | 0 | 1.01753E-05 | 1.96703E-03 | 4.8043E-05 |
| C/Y | 8539 |
Ig-70 |
84 | rs550882549 |
0.8473 | None | 1.0 | N | 0.905 | 0.545 | 0.815161448063 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| C/Y | 8539 |
Ig-70 |
84 | rs550882549 |
0.8473 | None | 1.0 | N | 0.905 | 0.545 | 0.815161448063 | gnomAD-4.0.0 | 2.05364E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79968E-06 | 0 | 1.65761E-05 |
| S/G | 8633 |
Ig-71 |
85 | rs776980958 |
0.1932 | -1.412 | 0.606 | N | 0.501 | 0.164 | 0.21279746466 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| S/G | 8633 |
Ig-71 |
85 | rs776980958 |
0.1932 | -1.412 | 0.606 | N | 0.501 | 0.164 | 0.21279746466 | gnomAD-4.0.0 | 1.59484E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86788E-06 | 0 | 0 |
| C/W | 8726 |
Ig-72 |
84 | None | 0.8742 | None | 1.0 | N | 0.778 | 0.352 | 0.339793275041 | gnomAD-4.0.0 | 2.05571E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70172E-06 | 0 | 0 |
| C/Y | 8726 |
Ig-72 |
84 | rs786205399 |
0.7975 | -1.634 | 1.0 | N | 0.814 | 0.386 | 0.805492851202 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/Y | 8726 |
Ig-72 |
84 | rs786205399 |
0.7975 | -1.634 | 1.0 | N | 0.814 | 0.386 | 0.805492851202 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | 8726 |
Ig-72 |
84 | rs786205399 |
0.7975 | -1.634 | 1.0 | N | 0.814 | 0.386 | 0.805492851202 | gnomAD-4.0.0 | 2.02991E-06 | None | None | None | None | N | None | 1.74715E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.20494E-06 | 0 | 0 |
| C/G | 8820 |
Ig-73 |
85 | rs1193461740 |
0.1471 | None | 0.999 | N | 0.861 | 0.555 | 0.817221544248 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/G | 8820 |
Ig-73 |
85 | rs1193461740 |
0.1471 | None | 0.999 | N | 0.861 | 0.555 | 0.817221544248 | gnomAD-4.0.0 | 6.57592E-06 | None | None | None | None | N | None | 2.41441E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | 8820 |
Ig-73 |
85 | rs778500616 |
0.3364 | -1.522 | 1.0 | N | 0.915 | 0.439 | 0.746340679362 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| C/Y | 8820 |
Ig-73 |
85 | rs778500616 |
0.3364 | -1.522 | 1.0 | N | 0.915 | 0.439 | 0.746340679362 | gnomAD-4.0.0 | 1.59325E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86364E-06 | 0 | 0 |
| C/G | 8913 |
Ig-74 |
84 | rs775565721 |
0.2245 | -2.599 | 0.92 | D | 0.726 | 0.34 | 0.819116995716 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.63655E-04 | None | 0 | 0 | 0 |
| C/G | 8913 |
Ig-74 |
84 | rs775565721 |
0.2245 | -2.599 | 0.92 | D | 0.726 | 0.34 | 0.819116995716 | gnomAD-4.0.0 | 6.84347E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 9.27967E-05 | 3.31356E-05 |
| C/G | 9009 |
Ig-75 |
84 | rs369287578 |
0.3389 | -2.722 | 0.999 | N | 0.797 | 0.387 | 0.853887960626 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| C/G | 9009 |
Ig-75 |
84 | rs369287578 |
0.3389 | -2.722 | 0.999 | N | 0.797 | 0.387 | 0.853887960626 | gnomAD-4.0.0 | 1.59181E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85919E-06 | 0 | 0 |
| C/R | 9009 |
Ig-75 |
84 | rs369287578 |
0.9114 | -1.172 | 0.999 | N | 0.847 | 0.482 | None | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| C/R | 9009 |
Ig-75 |
84 | rs369287578 |
0.9114 | -1.172 | 0.999 | N | 0.847 | 0.482 | None | gnomAD-4.0.0 | 1.59181E-06 | None | None | None | None | N | None | 0 | 2.28718E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/F | 9102 |
Ig-76 |
84 | None | 0.3187 | None | 0.681 | D | 0.793 | 0.317 | 0.735732525777 | gnomAD-4.0.0 | 6.84289E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99572E-07 | 0 | 0 |
| C/R | 9102 |
Ig-76 |
84 | None | 0.6772 | None | 0.009 | D | 0.679 | 0.36 | 0.720485838999 | gnomAD-4.0.0 | 8.21118E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.07945E-05 | 0 | 0 |
| C/S | 9102 |
Ig-76 |
84 | None | 0.2739 | None | 0.549 | N | 0.773 | 0.321 | 0.590021811661 | gnomAD-4.0.0 | 6.84289E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99572E-07 | 0 | 0 |
| C/Y | 9102 |
Ig-76 |
84 | rs779332931 |
0.5051 | -1.448 | 0.004 | N | 0.638 | 0.28 | 0.60763662857 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| C/Y | 9102 |
Ig-76 |
84 | rs779332931 |
0.5051 | -1.448 | 0.004 | N | 0.638 | 0.28 | 0.60763662857 | gnomAD-4.0.0 | 1.36858E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31922E-05 | 0 |
| C/F | 9195 |
Ig-77 |
84 | None | 0.4397 | None | 0.012 | N | 0.55 | 0.352 | 0.51469891142 | gnomAD-4.0.0 | 6.84269E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15977E-05 | 0 |
| C/R | 9195 |
Ig-77 |
84 | rs762899501 |
0.9016 | -0.499 | 0.934 | N | 0.727 | 0.516 | 0.629698297941 | gnomAD-2.1.1 | 3.57E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.1198E-04 | None | 0 | None | 0 | 0 | 0 |
| C/R | 9195 |
Ig-77 |
84 | rs762899501 |
0.9016 | -0.499 | 0.934 | N | 0.727 | 0.516 | 0.629698297941 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.9253E-04 | None | 0 | 0 | 0 | 0 | 0 |
| C/R | 9195 |
Ig-77 |
84 | rs762899501 |
0.9016 | -0.499 | 0.934 | N | 0.727 | 0.516 | 0.629698297941 | gnomAD-4.0.0 | 4.33802E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.3366E-04 | None | 0 | 0 | 8.47653E-07 | 0 | 0 |
| C/S | 9195 |
Ig-77 |
84 | rs750638085 |
0.2361 | -1.174 | 0.051 | N | 0.378 | 0.283 | 0.614082520381 | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/S | 9195 |
Ig-77 |
84 | rs750638085 |
0.2361 | -1.174 | 0.051 | N | 0.378 | 0.283 | 0.614082520381 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/S | 9195 |
Ig-77 |
84 | rs750638085 |
0.2361 | -1.174 | 0.051 | N | 0.378 | 0.283 | 0.614082520381 | gnomAD-4.0.0 | 9.29655E-06 | None | None | None | None | N | None | 1.06815E-04 | 0 | None | 0 | 0 | None | 0 | 1.64474E-04 | 8.47679E-07 | 1.09818E-05 | 6.40533E-05 |
| A/P | 9288 |
Ig-78 |
84 | None | 0.7669 | None | 0.055 | N | 0.709 | 0.244 | 0.236890367714 | gnomAD-4.0.0 | 1.61923E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.06673E-05 |
| S/C | 9384 |
Ig-79 |
84 | rs760466007 |
0.1699 | -0.603 | 0.015 | None | 0.382 | 0.228 | 0.331619326243 | gnomAD-2.1.1 | 4.2E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.2E-06 | 0 |
| S/C | 9384 |
Ig-79 |
84 | rs760466007 |
0.1699 | -0.603 | 0.015 | None | 0.382 | 0.228 | 0.331619326243 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| S/C | 9384 |
Ig-79 |
84 | rs760466007 |
0.1699 | -0.603 | 0.015 | None | 0.382 | 0.228 | 0.331619326243 | gnomAD-4.0.0 | 5.63418E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.68036E-06 | 0 | 0 |
| S/F | 9384 |
Ig-79 |
84 | rs760466007 |
0.7607 | None | 0.996 | None | 0.707 | 0.443 | 0.674110883911 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | 9384 |
Ig-79 |
84 | rs760466007 |
0.7607 | None | 0.996 | None | 0.707 | 0.443 | 0.674110883911 | gnomAD-4.0.0 | 6.57108E-06 | None | None | None | None | N | None | 0 | 6.54793E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/G | 9577 |
Ig-81 |
85 | rs1476712853 |
0.3418 | -1.693 | 0.669 | None | 0.735 | 0.421 | 0.803902362773 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 2.87687E-04 | 0 | 0 |
| C/G | 9577 |
Ig-81 |
85 | rs1476712853 |
0.3418 | -1.693 | 0.669 | None | 0.735 | 0.421 | 0.803902362773 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 9.41E-05 | 0 | 0 | 0 | 0 |
| C/G | 9577 |
Ig-81 |
85 | rs1476712853 |
0.3418 | -1.693 | 0.669 | None | 0.735 | 0.421 | 0.803902362773 | gnomAD-4.0.0 | 2.02974E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 9.17263E-05 | 0 | 1.2049E-06 | 0 | 0 |
| T/A | 9673 |
Ig-82 |
84 | rs759713900 |
0.0711 | -1.063 | 0.002 | None | 0.295 | 0.1 | 0.107399877778 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.66E-05 | 0 | 0 |
| T/A | 9673 |
Ig-82 |
84 | rs759713900 |
0.0711 | -1.063 | 0.002 | None | 0.295 | 0.1 | 0.107399877778 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.41E-05 | 0 | 0 | 0 | 0 |
| T/A | 9673 |
Ig-82 |
84 | rs759713900 |
0.0711 | -1.063 | 0.002 | None | 0.295 | 0.1 | 0.107399877778 | gnomAD-4.0.0 | 6.56978E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.40911E-05 | 0 | 0 | 0 | 0 |
| T/N | 9673 |
Ig-82 |
84 | None | 0.2728 | None | 0.012 | None | 0.41 | 0.113 | 0.273938319068 | gnomAD-4.0.0 | 9.5818E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.25956E-05 | 0 | 0 |
| T/S | 9673 |
Ig-82 |
84 | None | 0.0744 | None | None | None | 0.13 | 0.147 | 0.128392430309 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| A/S | 9980 |
Ig-84 |
81 | rs189286381 |
0.2437 | -0.935 | 0.18 | None | 0.315 | 0.185 | None | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.00067E-04 | None | 0 | 1.56E-05 | 0 |
| A/S | 9980 |
Ig-84 |
81 | rs189286381 |
0.2437 | -0.935 | 0.18 | None | 0.315 | 0.185 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/S | 9980 |
Ig-84 |
81 | rs189286381 |
0.2437 | -0.935 | 0.18 | None | 0.315 | 0.185 | None | gnomAD-4.0.0 | 1.61366E-05 | None | None | None | None | N | None | 1.33733E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69706E-05 | 5.52303E-05 | 0 |
| A/T | 9980 |
Ig-84 |
81 | rs189286381 |
0.5308 | -0.875 | 0.977 | None | 0.571 | 0.177 | None | gnomAD-2.1.1 | 6.02544E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.05624E-03 | None | 3.002E-04 | None | 0 | 7.82E-06 | 1.41283E-04 |
| A/T | 9980 |
Ig-84 |
81 | rs189286381 |
0.5308 | -0.875 | 0.977 | None | 0.571 | 0.177 | None | gnomAD-3.1.2 | 3.15449E-04 | None | None | None | None | N | None | 0 | 6.55E-05 | 1.42544E-02 | 0 | 5.95925E-03 | None | 0 | 0 | 1.47E-05 | 4.13736E-04 | 0 |
| A/T | 9980 |
Ig-84 |
81 | rs189286381 |
0.5308 | -0.875 | 0.977 | None | 0.571 | 0.177 | None | 1000 genomes | 9.98403E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 5E-03 | 0 | None | None | None | 0 | None |
| A/T | 9980 |
Ig-84 |
81 | rs189286381 |
0.5308 | -0.875 | 0.977 | None | 0.571 | 0.177 | None |
Sasaki (2020)
| None |
Other
|
comp het with A19938T, R29293C | None | None | N | Genetic analysis of 2 siblings with asymmetric facial and limb weakness; variant prioritisation; no validation | None | None | None | None | None | None | None | None | None | None | None |
| A/T | 9980 |
Ig-84 |
81 | rs189286381 |
0.5308 | -0.875 | 0.977 | None | 0.571 | 0.177 | None | gnomAD-4.0.0 | 1.97969E-04 | None | None | None | None | N | None | 0 | 1.67325E-05 | None | 0 | 5.83987E-03 | None | 0 | 1.65344E-04 | 1.18795E-05 | 2.20931E-04 | 1.28242E-04 |
| S/F | 13769 |
Ig-87 |
86 | rs1306932117 |
0.9552 | -1.105 | 0.999 | D | 0.775 | 0.518 | 0.733710926309 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| S/F | 13769 |
Ig-87 |
86 | rs1306932117 |
0.9552 | -1.105 | 0.999 | D | 0.775 | 0.518 | 0.733710926309 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| C/S | 13862 |
Ig-88 |
83 | None | 0.8364 | None | 0.991 | N | 0.682 | 0.375 | 0.472741223727 | gnomAD-4.0.0 | 4.82402E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.33522E-06 | 0 | 0 |
| S/F | 14220 |
Ig-92 |
79 | rs777534842 |
0.7633 | -0.644 | 0.984 | D | 0.807 | 0.422 | 0.624477516964 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/F | 14220 |
Ig-92 |
79 | rs777534842 |
0.7633 | -0.644 | 0.984 | D | 0.807 | 0.422 | 0.624477516964 | gnomAD-4.0.0 | 1.36884E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31943E-05 | 0 |
| T/I | 14308 |
Ig-93 |
78 | None | 0.9124 | None | 1.0 | D | 0.876 | 0.446 | 0.661252799969 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| L/R | 14490 |
Ig-95 |
83 | rs2154221765 |
0.9886 | None | 1.0 | D | 0.815 | 0.799 | 0.911696079222 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/R | 14490 |
Ig-95 |
83 | rs2154221765 |
0.9886 | None | 1.0 | D | 0.815 | 0.799 | 0.911696079222 | gnomAD-4.0.0 | 6.56797E-06 | None | None | None | None | N | None | 2.40431E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | 14664 |
Ig-97 |
79 | rs768825478 |
0.3505 | -1.636 | 0.999 | N | 0.512 | 0.228 | 0.229924730088 | gnomAD-2.1.1 | 4.65E-05 | None | None | None | None | N | None | 0 | 3.68523E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/S | 14664 |
Ig-97 |
79 | rs768825478 |
0.3505 | -1.636 | 0.999 | N | 0.512 | 0.228 | 0.229924730088 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | 14664 |
Ig-97 |
79 | rs768825478 |
0.3505 | -1.636 | 0.999 | N | 0.512 | 0.228 | 0.229924730088 | gnomAD-4.0.0 | 1.79493E-05 | None | None | None | None | N | None | 0 | 2.37441E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | 15648 |
Ig-108 |
81 | rs1060500413 |
0.4749 | -0.488 | 0.497 | N | 0.812 | 0.214 | 0.187945064343 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 0 | 0 |
| G/E | 15648 |
Ig-108 |
81 | rs1060500413 |
0.4749 | -0.488 | 0.497 | N | 0.812 | 0.214 | 0.187945064343 | gnomAD-4.0.0 | 2.73959E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00003E-07 | 2.3265E-05 | 1.65904E-05 |
| A/S | 16342 |
Ig-110 |
81 | rs1429247714 |
0.3583 | -1.063 | 1.0 | N | 0.617 | 0.408 | 0.518147779662 | gnomAD-2.1.1 | 1.63E-05 | None | None | None | None | I | None | 6.48E-05 | 0 | None | 0 | 5.65E-05 | None | 6.7E-05 | None | 0 | 0 | 0 |
| A/S | 16342 |
Ig-110 |
81 | rs1429247714 |
0.3583 | -1.063 | 1.0 | N | 0.617 | 0.408 | 0.518147779662 | gnomAD-4.0.0 | 3.43153E-06 | None | None | None | None | I | None | 3.0012E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.68285E-05 | 0 |
| A/V | 17755 |
Ig-113 |
79 | rs777396852 |
0.2819 | 0.161 | 1.0 | N | 0.719 | 0.436 | 0.659072316242 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| R/G | 18056 |
Ig-114 |
89 | None | 0.5043 | None | 0.756 | N | 0.628 | 0.265 | 0.523495912915 | gnomAD-4.0.0 | 6.90367E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.185E-05 | 0 |
| R/Q | 18056 |
Ig-114 |
89 | rs376932266 |
0.1359 | -0.335 | 0.774 | N | 0.581 | 0.176 | None | gnomAD-2.1.1 | 1.84E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 7.04E-05 | None | 0 | 2.41E-05 | 0 |
| R/Q | 18056 |
Ig-114 |
89 | rs376932266 |
0.1359 | -0.335 | 0.774 | N | 0.581 | 0.176 | None | gnomAD-3.1.2 | 4.61E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.83E-05 | 0 | 0 |
| R/Q | 18056 |
Ig-114 |
89 | rs376932266 |
0.1359 | -0.335 | 0.774 | N | 0.581 | 0.176 | None | gnomAD-4.0.0 | 2.62526E-05 | None | None | None | None | N | None | 1.34376E-05 | 0 | None | 6.97545E-05 | 0 | None | 0 | 0 | 2.90144E-05 | 3.36927E-05 | 3.23426E-05 |
| A/T | 18470 |
Ig-115 |
89 | rs1447736099 |
0.1065 | None | 0.801 | N | 0.521 | 0.264 | 0.294206760003 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | 18470 |
Ig-115 |
89 | rs1374641956 |
0.1278 | 0.055 | 0.002 | N | 0.221 | 0.114 | None | gnomAD-2.1.1 | 4.21E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.84E-05 | None | 0 | None | 0 | 0 | 0 |
| A/V | 18470 |
Ig-115 |
89 | rs1374641956 |
0.1278 | 0.055 | 0.002 | N | 0.221 | 0.114 | None | gnomAD-4.0.0 | 1.17247E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 4.29988E-04 | None | 0 | 0 | 0 | 0 | 0 |
| K/E | 18775 |
Ig-116 |
88 | rs1330261785 |
0.2281 | 0.303 | 0.999 | N | 0.646 | 0.449 | 0.49908893446 | gnomAD-2.1.1 | 4.28E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.34E-06 | 0 |
| K/E | 18775 |
Ig-116 |
88 | rs1330261785 |
0.2281 | 0.303 | 0.999 | N | 0.646 | 0.449 | 0.49908893446 | gnomAD-4.0.0 | 3.30844E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93067E-06 | 0 | 0 |
| K/N | 18775 |
Ig-116 |
88 | rs747785028 |
0.6948 | -0.295 | 1.0 | D | 0.799 | 0.401 | 0.415564226483 | gnomAD-2.1.1 | 8.6E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.88E-05 | 0 |
| K/N | 18775 |
Ig-116 |
88 | rs747785028 |
0.6948 | -0.295 | 1.0 | D | 0.799 | 0.401 | 0.415564226483 | gnomAD-4.0.0 | 2.78477E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.73077E-06 | 0 | 1.68674E-05 |
| G/A | 19470 |
Ig-118 |
80 | None | 0.159 | None | 1.0 | N | 0.667 | 0.359 | 0.348983352498 | gnomAD-4.0.0 | 1.36872E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.32116E-05 | 0 |
| G/D | 19470 |
Ig-118 |
80 | rs750836050 |
0.8436 | -0.473 | 1.0 | D | 0.821 | 0.445 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.96E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | 19470 |
Ig-118 |
80 | rs750836050 |
0.8436 | -0.473 | 1.0 | D | 0.821 | 0.445 | None | gnomAD-4.0.0 | 2.05308E-06 | None | None | None | None | N | None | 0 | 0 | None | 7.6558E-05 | 0 | None | 0 | 0 | 0 | 0 | 1.65695E-05 |
| G/V | 19470 |
Ig-118 |
80 | rs750836050 |
0.462 | 0.551 | 1.0 | N | 0.862 | 0.456 | 0.604892984849 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| G/V | 19470 |
Ig-118 |
80 | rs750836050 |
0.462 | 0.551 | 1.0 | N | 0.862 | 0.456 | 0.604892984849 | gnomAD-4.0.0 | 1.36872E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79916E-06 | 0 | 0 |
| V/I | 19868 |
Ig-119 |
79 | None | 0.1244 | None | 0.954 | N | 0.638 | 0.279 | 0.604005332458 | gnomAD-4.0.0 | 6.84559E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99651E-07 | 0 | 0 |
| V/A | 20162 |
Ig-120 |
83 | rs1268857249 |
0.1227 | None | 0.002 | N | 0.35 | 0.19 | 0.300449992093 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93874E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | 20162 |
Ig-120 |
83 | rs1268857249 |
0.1227 | None | 0.002 | N | 0.35 | 0.19 | 0.300449992093 | gnomAD-4.0.0 | 6.57592E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.93874E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | 20162 |
Ig-120 |
83 | rs371574493 |
0.0983 | -0.277 | 0.429 | D | 0.578 | 0.27 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| V/I | 20162 |
Ig-120 |
83 | rs371574493 |
0.0983 | -0.277 | 0.429 | D | 0.578 | 0.27 | None | gnomAD-4.0.0 | 3.18428E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71961E-06 | 0 | 0 |
| G/A | 20560 |
Ig-121 |
82 | rs754293456 |
0.0984 | -0.201 | 0.011 | N | 0.323 | 0.153 | 0.214338557667 | gnomAD-2.1.1 | 5.25E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 4.25337E-04 | None | 0 | 0 | 0 |
| G/A | 20560 |
Ig-121 |
82 | rs754293456 |
0.0984 | -0.201 | 0.011 | N | 0.323 | 0.153 | 0.214338557667 | gnomAD-4.0.0 | 2.12192E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.59562E-04 | 0 |
| G/D | 20560 |
Ig-121 |
82 | None | 0.6858 | -0.294 | 0.984 | N | 0.732 | 0.31 | 0.442977140156 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| G/D | 20560 |
Ig-121 |
82 | None | 0.6858 | -0.294 | 0.984 | N | 0.732 | 0.31 | 0.442977140156 | gnomAD-4.0.0 | 2.73796E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59889E-06 | 0 | 0 |
| G/V | 20560 |
Ig-121 |
82 | rs754293456 |
0.2732 | 0.019 | 0.811 | N | 0.739 | 0.267 | 0.492336895404 | gnomAD-2.1.1 | 7.16E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.01E-05 | 7.84E-06 | 0 |
| G/V | 20560 |
Ig-121 |
82 | rs754293456 |
0.2732 | 0.019 | 0.811 | N | 0.739 | 0.267 | 0.492336895404 | gnomAD-4.0.0 | 6.84489E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.87378E-05 | 0 | 0 | 0 | 0 |
| Q/H | 21550 |
Ig-124 |
82 | None | 0.3244 | None | 0.999 | N | 0.591 | 0.301 | 0.40218521252 | gnomAD-4.0.0 | 1.61222E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.89086E-06 | 0 | 0 |
| A/P | 21947 |
Ig-125 |
82 | rs1434065340 |
0.992 | -0.845 | 0.983 | D | 0.773 | 0.69 | 0.553872852973 | gnomAD-4.0.0 | 1.82037E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.37701E-05 |
| A/V | 21947 |
Ig-125 |
82 | rs2154178631 |
0.2136 | None | 0.892 | N | 0.652 | 0.365 | 0.473695954338 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94175E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | 23426 |
Ig-129 |
82 | None | 0.1782 | None | 0.983 | N | 0.583 | 0.322 | 0.197625483188 | gnomAD-4.0.0 | 1.59168E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43299E-05 | 0 |
| G/V | 23426 |
Ig-129 |
82 | None | 0.5437 | None | 0.652 | N | 0.645 | 0.381 | 0.594056560588 | gnomAD-4.0.0 | 1.59168E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77454E-05 | None | 0 | 0 | 0 | 0 | 0 |
| D/V | 23717 |
Ig-130 |
81 | None | 0.4433 | None | 0.97 | N | 0.747 | 0.481 | 0.492542987314 | gnomAD-4.0.0 | 1.59237E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43324E-05 | 0 |
| D/Y | 23717 |
Ig-130 |
81 | rs371818894 |
0.5134 | 0.745 | 0.89 | N | 0.785 | 0.352 | None | gnomAD-2.1.1 | 4.3E-05 | None | None | None | None | I | None | 4.14E-05 | 0 | None | 0 | 0 | None | 0 | None | 1.20086E-04 | 5.48E-05 | 1.41123E-04 |
| D/Y | 23717 |
Ig-130 |
81 | rs371818894 |
0.5134 | 0.745 | 0.89 | N | 0.785 | 0.352 | None | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | I | None | 7.24E-05 | 6.55E-05 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 5.88E-05 | 0 | 0 |
| D/Y | 23717 |
Ig-130 |
81 | rs371818894 |
0.5134 | 0.745 | 0.89 | N | 0.785 | 0.352 | None | gnomAD-4.0.0 | 1.28308E-04 | None | None | None | None | I | None | 3.99936E-05 | 1.667E-05 | None | 0 | 0 | None | 1.09402E-04 | 0 | 1.61073E-04 | 0 | 9.6083E-05 |
| H/P | 24113 |
Ig-131 |
85 | None | 0.8865 | None | 0.996 | N | 0.673 | 0.422 | 0.503930629158 | gnomAD-4.0.0 | 3.19953E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.746E-06 | 0 | 0 |
| A/T | 25592 |
Ig-135 |
79 | None | 0.1335 | None | 0.008 | D | 0.409 | 0.235 | 0.31411915649 | gnomAD-4.0.0 | 3.18432E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.54816E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | 25592 |
Ig-135 |
79 | rs1707265300 |
0.146 | None | 0.075 | N | 0.389 | 0.262 | 0.398283496042 | gnomAD-4.0.0 | 1.59217E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43382E-05 | 0 |
| A/V | 25881 |
Ig-136 |
84 | None | 0.107 | None | 0.008 | D | 0.46 | 0.229 | 0.291694819147 | gnomAD-4.0.0 | 1.59208E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85964E-06 | 0 | 0 |
| F/L | 26277 |
Ig-137 |
85 | rs1265065751 |
0.6105 | -1.012 | 0.08 | N | 0.24 | 0.113 | 0.293147016451 | gnomAD-2.1.1 | 4.13E-06 | None | None | None | None | N | None | 0 | 3E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/L | 26277 |
Ig-137 |
85 | rs1265065751 |
0.6105 | -1.012 | 0.08 | N | 0.24 | 0.113 | 0.293147016451 | gnomAD-4.0.0 | 1.60822E-06 | None | None | None | None | N | None | 0 | 2.35228E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/Y | 26277 |
Ig-137 |
85 | None | 0.1731 | None | 0.001 | N | 0.131 | 0.2 | 0.328486982098 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| E/D | 26963 |
Ig-139 |
84 | rs1705288214 |
0.1998 | None | 0.904 | N | 0.602 | 0.241 | 0.455173453901 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| E/D | 26963 |
Ig-139 |
84 | rs1705288214 |
0.1998 | None | 0.904 | N | 0.602 | 0.241 | 0.455173453901 | gnomAD-4.0.0 | 6.57514E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47054E-05 | 0 | 0 |
| E/Q | 26963 |
Ig-139 |
84 | rs1705290908 |
0.1456 | None | 0.97 | N | 0.691 | 0.269 | 0.370240404367 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| E/Q | 26963 |
Ig-139 |
84 | rs1705290908 |
0.1456 | None | 0.97 | N | 0.691 | 0.269 | 0.370240404367 | gnomAD-4.0.0 | 6.57436E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47029E-05 | 0 | 0 |
| I/L | 27360 |
Ig-140 |
83 | rs764393169 |
0.1015 | -0.292 | 0.164 | N | 0.339 | 0.095 | 0.533131753447 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| I/T | 27360 |
Ig-140 |
83 | None | 0.4543 | None | 0.684 | N | 0.593 | 0.34 | 0.651931416193 | gnomAD-4.0.0 | 1.59134E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02462E-05 |
| A/V | 27757 |
Ig-141 |
82 | None | 0.3375 | None | 0.085 | N | 0.391 | 0.218 | 0.324436698001 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| V/F | 28046 |
Ig-142 |
84 | None | 0.1611 | None | 0.655 | N | 0.615 | 0.186 | 0.683689280437 | gnomAD-4.0.0 | 5.47506E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19655E-06 | 0 | 0 |
| V/A | 28441 |
Ig-143 |
84 | None | 0.1674 | None | None | N | 0.105 | 0.124 | 0.311079019809 | gnomAD-4.0.0 | 6.8427E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9948E-07 | 0 | 0 |
| V/G | 28441 |
Ig-143 |
84 | rs759245283 |
0.3176 | -0.883 | 0.055 | N | 0.573 | 0.159 | 0.620116128015 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/G | 28441 |
Ig-143 |
84 | rs759245283 |
0.3176 | -0.883 | 0.055 | N | 0.573 | 0.159 | 0.620116128015 | gnomAD-4.0.0 | 6.15843E-06 | None | None | None | None | I | None | 2.98775E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79896E-06 | 5.79697E-05 | 1.65689E-05 |
| L/V | 28836 |
Ig-144 |
82 | rs1335461948 |
0.1185 | None | 0.004 | N | 0.331 | 0.053 | 0.381916209588 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/V | 28836 |
Ig-144 |
82 | rs1335461948 |
0.1185 | None | 0.004 | N | 0.331 | 0.053 | 0.381916209588 | gnomAD-4.0.0 | 6.5703E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46968E-05 | 0 | 0 |
| A/V | 29128 |
Ig-145 |
84 | rs1211271683 |
0.1355 | 0.397 | 0.027 | N | 0.585 | 0.278 | 0.381071309025 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | 29128 |
Ig-145 |
84 | rs1211271683 |
0.1355 | 0.397 | 0.027 | N | 0.585 | 0.278 | 0.381071309025 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | 29128 |
Ig-145 |
84 | rs1211271683 |
0.1355 | 0.397 | 0.027 | N | 0.585 | 0.278 | 0.381071309025 | gnomAD-4.0.0 | 2.47937E-06 | None | None | None | None | N | None | 1.33447E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54264E-06 | 0 | 0 |
| A/V | 29524 |
Ig-146 |
81 | rs1700784801 |
0.2126 | None | 0.733 | N | 0.387 | 0.298 | 0.479893544335 | gnomAD-4.0.0 | 1.59115E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02425E-05 |
| S/L | 29924 |
Ig-147 |
83 | rs1391021761 |
0.1373 | -0.035 | 0.454 | N | 0.559 | 0.22 | 0.501308276186 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| S/L | 29924 |
Ig-147 |
83 | rs1391021761 |
0.1373 | -0.035 | 0.454 | N | 0.559 | 0.22 | 0.501308276186 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/L | 29924 |
Ig-147 |
83 | rs1391021761 |
0.1373 | -0.035 | 0.454 | N | 0.559 | 0.22 | 0.501308276186 | gnomAD-4.0.0 | 2.56692E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.42624E-05 | None | 0 | 0 | 2.39953E-06 | 0 | 0 |
| F/C | 31299 |
Ig-151 |
82 | rs1321285611 |
0.5269 | -0.774 | 1.0 | N | 0.833 | 0.515 | 0.832015162006 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| F/L | 31299 |
Ig-151 |
82 | None | 0.9312 | None | 0.999 | N | 0.59 | 0.427 | 0.549164311151 | gnomAD-4.0.0 | 1.59105E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85778E-06 | 0 | 0 |
| V/M | 31699 |
Ig-152 |
79 | rs751420355 |
0.1664 | -0.48 | 0.988 | N | 0.607 | 0.3 | 0.626087153395 | gnomAD-2.1.1 | 3.23E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.12E-05 | None | 1.6481E-04 | None | 0 | 2.35E-05 | 0 |
| V/M | 31699 |
Ig-152 |
79 | rs751420355 |
0.1664 | -0.48 | 0.988 | N | 0.607 | 0.3 | 0.626087153395 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92604E-04 | None | 0 | 0 | 2.94E-05 | 2.06868E-04 | 4.77555E-04 |
| V/M | 31699 |
Ig-152 |
79 | rs751420355 |
0.1664 | -0.48 | 0.988 | N | 0.607 | 0.3 | 0.626087153395 | gnomAD-4.0.0 | 2.66854E-05 | None | None | None | None | N | None | 0 | 0 | None | 3.39029E-05 | 4.45891E-05 | None | 0 | 0 | 2.54654E-05 | 9.90535E-05 | 1.60292E-05 |
| A/P | 32096 |
Ig-153 |
80 | None | 0.985 | None | 0.999 | D | 0.779 | 0.529 | 0.675138954982 | gnomAD-4.0.0 | 6.84273E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65695E-05 |
| A/T | 32096 |
Ig-153 |
80 | rs376039623 |
0.12 | -0.882 | 0.576 | N | 0.398 | 0.248 | None | gnomAD-2.1.1 | 8.06E-05 | None | None | None | None | N | None | 0 | 1.74044E-04 | None | 0 | 0 | None | 0 | None | 0 | 1.24909E-04 | 0 |
| A/T | 32096 |
Ig-153 |
80 | rs376039623 |
0.12 | -0.882 | 0.576 | N | 0.398 | 0.248 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 0 | 1.96361E-04 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 9.57854E-04 |
| A/T | 32096 |
Ig-153 |
80 | rs376039623 |
0.12 | -0.882 | 0.576 | N | 0.398 | 0.248 | None | gnomAD-4.0.0 | 3.78047E-05 | None | None | None | None | N | None | 0 | 2.0002E-04 | None | 0 | 0 | None | 0 | 0 | 3.81457E-05 | 0 | 6.40615E-05 |
| V/A | 32786 |
Ig-155 |
79 | rs1170766154 |
0.2135 | None | 0.013 | N | 0.347 | 0.189 | 0.387202362727 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.9305E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | 32786 |
Ig-155 |
79 | rs1170766154 |
0.2135 | None | 0.013 | N | 0.347 | 0.189 | 0.387202362727 | gnomAD-4.0.0 | 2.02998E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.13507E-04 | None | 0 | 0 | 1.20494E-06 | 0 | 0 |
| V/I | 32786 |
Ig-155 |
79 | rs1206930199 |
0.0941 | -0.162 | 0.174 | N | 0.561 | 0.117 | 0.435915822735 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | 32786 |
Ig-155 |
79 | rs1206930199 |
0.0941 | -0.162 | 0.174 | N | 0.561 | 0.117 | 0.435915822735 | gnomAD-4.0.0 | 1.59124E-06 | None | None | None | None | N | None | 5.65483E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | 33281 |
Ig-157 |
79 | None | 0.0678 | None | None | N | 0.191 | 0.091 | 0.24896430686 | gnomAD-4.0.0 | 6.97564E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.6913E-05 |
| G/A | 33581 |
Ig-158 |
86 | None | 0.1095 | None | 0.012 | N | 0.267 | 0.164 | 0.17948927462 | gnomAD-4.0.0 | 4.29775E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.54965E-06 | 0 | 0 |
| K/N | 33680 |
Ig-159 |
85 | rs776913696 |
0.7497 | -0.984 | 0.995 | N | 0.581 | 0.361 | 0.32053947749 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.12E-05 | 0 |
| K/N | 33680 |
Ig-159 |
85 | rs776913696 |
0.7497 | -0.984 | 0.995 | N | 0.581 | 0.361 | 0.32053947749 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| K/N | 33680 |
Ig-159 |
85 | rs776913696 |
0.7497 | -0.984 | 0.995 | N | 0.581 | 0.361 | 0.32053947749 | gnomAD-4.0.0 | 5.51508E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.37394E-05 | 0 | 3.20215E-05 |
| K/R | 33680 |
Ig-159 |
85 | None | 0.1321 | None | 0.952 | N | 0.5 | 0.342 | 0.342400092842 | gnomAD-4.0.0 | 1.59116E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85799E-06 | 0 | 0 |
| S/A | 34220 |
Ig-160 |
84 | rs763863092 |
0.127 | -0.825 | 0.122 | N | 0.327 | 0.222 | None | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | I | None | 1.65317E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/A | 34220 |
Ig-160 |
84 | rs763863092 |
0.127 | -0.825 | 0.122 | N | 0.327 | 0.222 | None | gnomAD-3.1.2 | 5.91E-05 | None | None | None | None | I | None | 2.17108E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/A | 34220 |
Ig-160 |
84 | rs763863092 |
0.127 | -0.825 | 0.122 | N | 0.327 | 0.222 | None | gnomAD-4.0.0 | 1.53713E-05 | None | None | None | None | I | None | 2.02895E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/F | 34447 |
Ig-162 |
85 | rs770558110 |
0.9589 | -1.539 | 1.0 | N | 0.913 | 0.568 | 0.839760408319 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| C/F | 34447 |
Ig-162 |
85 | rs770558110 |
0.9589 | -1.539 | 1.0 | N | 0.913 | 0.568 | 0.839760408319 | gnomAD-4.0.0 | 1.59093E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 0 |
| A/T | 35212 |
Ig-164 |
84 | rs1462254442 |
0.1583 | None | 1.0 | N | 0.755 | 0.501 | 0.42526943336 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | 35212 |
Ig-164 |
84 | rs1462254442 |
0.1583 | None | 1.0 | N | 0.755 | 0.501 | 0.42526943336 | gnomAD-4.0.0 | 5.57681E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.62787E-06 | 0 | 0 |
| T/A | 35370 |
Ig-165 |
85 | rs910216145 |
0.1217 | -1.09 | 0.911 | N | 0.574 | 0.183 | 0.230578612272 | gnomAD-2.1.1 | 7.13E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.56E-05 | 0 |
| T/A | 35370 |
Ig-165 |
85 | rs910216145 |
0.1217 | -1.09 | 0.911 | N | 0.574 | 0.183 | 0.230578612272 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/A | 35370 |
Ig-165 |
85 | rs910216145 |
0.1217 | -1.09 | 0.911 | N | 0.574 | 0.183 | 0.230578612272 | gnomAD-4.0.0 | 3.71781E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08522E-06 | 0 | 0 |
| T/I | 35370 |
Ig-165 |
85 | None | 0.3109 | None | 0.997 | N | 0.776 | 0.378 | 0.518970300747 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| T/N | 35370 |
Ig-165 |
85 | rs536166568 |
0.2392 | -0.946 | 0.98 | N | 0.675 | 0.321 | 0.473616572423 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92308E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/N | 35370 |
Ig-165 |
85 | rs536166568 |
0.2392 | -0.946 | 0.98 | N | 0.675 | 0.321 | 0.473616572423 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| T/N | 35370 |
Ig-165 |
85 | rs536166568 |
0.2392 | -0.946 | 0.98 | N | 0.675 | 0.321 | 0.473616572423 | gnomAD-4.0.0 | 6.56633E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.92753E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | 35503 |
Ig-166 |
84 | rs1688342681 |
0.449 | None | 0.857 | D | 0.681 | 0.303 | 0.557050979708 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92382E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | 35503 |
Ig-166 |
84 | rs1688342681 |
0.449 | None | 0.857 | D | 0.681 | 0.303 | 0.557050979708 | gnomAD-4.0.0 | 6.51274E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.21844E-04 | None | 0 | 0 | 0 | 0 | 0 |
| C/S | 35688 |
Ig-167 |
82 | rs878952929 |
0.7333 | -1.487 | 0.22 | N | 0.683 | 0.377 | 0.696184535837 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.49E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/S | 35688 |
Ig-167 |
82 | rs878952929 |
0.7333 | -1.487 | 0.22 | N | 0.683 | 0.377 | 0.696184535837 | gnomAD-4.0.0 | 1.59203E-06 | None | None | None | None | N | None | 5.65291E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | 35785 |
Ig-168 |
84 | rs1455841939 |
0.9923 | -0.148 | 1.0 | D | 0.863 | 0.751 | 0.573648845035 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.85E-06 | 0 |
| A/P | 35785 |
Ig-168 |
84 | rs1455841939 |
0.9923 | -0.148 | 1.0 | D | 0.863 | 0.751 | 0.573648845035 | gnomAD-4.0.0 | 1.59124E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85804E-06 | 0 | 0 |
| A/S | 35785 |
Ig-168 |
84 | rs1455841939 |
0.1809 | -0.814 | 1.0 | N | 0.619 | 0.369 | 0.417843521124 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/S | 35785 |
Ig-168 |
84 | rs1455841939 |
0.1809 | -0.814 | 1.0 | N | 0.619 | 0.369 | 0.417843521124 | gnomAD-4.0.0 | 1.59124E-06 | None | None | None | None | N | None | 0 | 2.28707E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | 35982 |
Ig-169 |
86 | None | 0.5468 | None | 0.992 | N | 0.557 | 0.424 | 0.576907859032 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | -2.166(OBSL1) -0.789(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-06 | 0 | 0 |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.