Structural position:
- Domain Type: Ig
- Aligned Position: 154
- Secondary Structure Element: e
- Secondary Structure Region: β-strand F
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/H | 78 |
Ig-1 |
73 | None | 0.9783 | None | 0.999 | D | 0.685 | 0.657 | 0.744883404023 | gnomAD-4.0.0 | 1.59044E-06 | None | None | None | -0.08(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 0 |
| Y/H | 1154 |
Ig-4 |
73 | None | 0.9976 | None | 1.0 | D | 0.801 | 0.858 | 0.714328772918 | 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 |
| Y/C | 1628 |
Ig-7 |
73 | rs1272404083 |
0.9944 | -0.986 | 1.0 | D | 0.865 | 0.921 | 0.89190583655 | gnomAD-2.1.1 | 4E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/C | 1628 |
Ig-7 |
73 | rs1272404083 |
0.9944 | -0.986 | 1.0 | D | 0.865 | 0.921 | 0.89190583655 | 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 |
| Y/C | 1628 |
Ig-7 |
73 | rs1272404083 |
0.9944 | -0.986 | 1.0 | D | 0.865 | 0.921 | 0.89190583655 | gnomAD-4.0.0 | 4.05956E-06 | None | None | None | None | N | None | 0 | 6.15082E-05 | None | 0 | 0 | None | 0 | 0 | 3.61475E-06 | 0 | 0 |
| Y/F | 1628 |
Ig-7 |
73 | rs1272404083 |
0.4226 | None | 0.999 | D | 0.689 | 0.773 | 0.780856518222 | 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 |
| Y/F | 1628 |
Ig-7 |
73 | rs1272404083 |
0.4226 | None | 0.999 | D | 0.689 | 0.773 | 0.780856518222 | gnomAD-4.0.0 | 6.56953E-06 | None | None | None | None | N | None | 0 | 6.54707E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | 1910 |
Ig-9 |
70 | rs1322379803 |
0.9464 | -1.953 | 0.999 | N | 0.758 | 0.345 | 0.411531665326 | 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 |
| V/A | 1910 |
Ig-9 |
70 | rs1322379803 |
0.9464 | -1.953 | 0.999 | N | 0.758 | 0.345 | 0.411531665326 | gnomAD-4.0.0 | 6.84075E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99303E-07 | 0 | 0 |
| V/E | 1910 |
Ig-9 |
70 | None | 0.9968 | None | 1.0 | N | 0.903 | 0.528 | 0.586903838554 | gnomAD-4.0.0 | 6.84075E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99303E-07 | 0 | 0 |
| V/L | 1910 |
Ig-9 |
70 | rs765618372 |
0.6498 | 0.236 | 0.997 | N | 0.759 | 0.316 | 0.26169431596 | 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 |
| V/L | 1910 |
Ig-9 |
70 | rs765618372 |
0.6498 | 0.236 | 0.997 | N | 0.759 | 0.316 | 0.26169431596 | gnomAD-4.0.0 | 1.59052E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85657E-06 | 0 | 0 |
| V/M | 1910 |
Ig-9 |
70 | rs765618372 |
0.7246 | -0.158 | 1.0 | N | 0.801 | 0.33 | 0.263612267334 | 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 |
| V/M | 1910 |
Ig-9 |
70 | rs765618372 |
0.7246 | -0.158 | 1.0 | N | 0.801 | 0.33 | 0.263612267334 | gnomAD-4.0.0 | 3.18104E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71314E-06 | 0 | 0 |
| I/L | 2149 |
Ig-10 |
72 | rs967525723 |
0.2053 | None | 0.889 | D | 0.496 | 0.45 | 0.619116397592 | 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 |
| I/L | 2149 |
Ig-10 |
72 | rs967525723 |
0.2053 | None | 0.889 | D | 0.496 | 0.45 | 0.619116397592 | gnomAD-4.0.0 | 6.57082E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46981E-05 | 0 | 0 |
| I/V | 2149 |
Ig-10 |
72 | rs967525723 |
0.0964 | None | 0.333 | N | 0.373 | 0.252 | 0.586174608782 | gnomAD-4.0.0 | 1.36821E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7986E-06 | 0 | 0 |
| Y/C | 2244 |
Ig-11 |
71 | None | 0.8495 | None | 1.0 | D | 0.869 | 0.426 | 0.427713192076 | gnomAD-4.0.0 | 8.40229E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.18756E-06 | 0 | 0 |
| Y/H | 2515 |
Ig-14 |
71 | None | 0.8353 | None | 0.99 | D | 0.715 | 0.823 | 0.678009228414 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| Y/C | 2602 |
Ig-15 |
70 | None | 0.8804 | None | 1.0 | D | 0.885 | 0.91 | 0.78620880623 | gnomAD-4.0.0 | 1.59112E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.8826E-05 | 0 | 0 | 0 | 0 |
| Y/C | 2777 |
Ig-17 |
71 | None | 0.6303 | None | 1.0 | D | 0.838 | 0.959 | 0.93031496195 | gnomAD-4.0.0 | 1.36815E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79859E-06 | 0 | 0 |
| Y/C | 3218 |
Ig-22 |
72 | None | 0.992 | None | 0.999 | D | 0.871 | 0.428 | 0.37281450598 | gnomAD-4.0.0 | 6.8408E-07 | None | None | None | None | N | None | 0 | 2.23624E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/S | 3218 |
Ig-22 |
72 | None | 0.9978 | None | 0.989 | D | 0.881 | 0.411 | 0.495970961353 | gnomAD-4.0.0 | 6.8408E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 0 |
| Y/H | 3309 |
Ig-23 |
71 | rs2090020782 |
0.9902 | None | 1.0 | D | 0.794 | 0.917 | 0.850723522503 | 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 |
| Y/H | 3309 |
Ig-23 |
71 | rs2090020782 |
0.9902 | None | 1.0 | D | 0.794 | 0.917 | 0.850723522503 | gnomAD-4.0.0 | 6.56961E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
| Y/C | 3414 |
Ig-24 |
70 | None | 0.7868 | None | 1.0 | D | 0.859 | 0.912 | 0.93233676213 | gnomAD-4.0.0 | 1.59076E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02188E-05 |
| Y/D | 3414 |
Ig-24 |
70 | None | 0.9971 | None | 1.0 | D | 0.887 | 0.923 | 0.948424836998 | gnomAD-4.0.0 | 1.20036E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31255E-06 | 0 | 0 |
| Y/C | 3537 |
Ig-25 |
73 | rs2087695492 |
0.979 | None | None | None | None | 0.661 | None | 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 |
| Y/H | 3537 |
Ig-25 |
73 | rs1553969617 |
0.9866 | None | None | None | None | 0.644 | None | 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 |
| Y/C | 3730 |
Ig-26 |
71 | None | 0.8983 | None | None | None | None | 0.802 | None | gnomAD-4.0.0 | 1.20043E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31262E-06 | 0 | 0 |
| Y/H | 3730 |
Ig-26 |
71 | None | 0.9259 | None | None | None | None | 0.596 | None | gnomAD-4.0.0 | 3.60122E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.93779E-06 | 0 | 0 |
| Y/C | 4009 |
Ig-28 |
72 | rs753367343 |
0.8397 | -0.867 | 1.0 | D | 0.868 | 0.79 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 8.9E-06 | 0 |
| Y/C | 4009 |
Ig-28 |
72 | rs753367343 |
0.8397 | -0.867 | 1.0 | D | 0.868 | 0.79 | None | gnomAD-4.0.0 | 3.42219E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79887E-06 | 3.47802E-05 | 0 |
| Y/H | 4009 |
Ig-28 |
72 | rs1166395538 |
0.9085 | -2.399 | 1.0 | D | 0.799 | 0.811 | None | 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 |
| Y/H | 4009 |
Ig-28 |
72 | rs1166395538 |
0.9085 | -2.399 | 1.0 | D | 0.799 | 0.811 | None | gnomAD-4.0.0 | 1.59249E-06 | None | None | None | None | N | None | 0 | 2.28686E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | 4675 |
Ig-29 |
70 | rs776394244 |
0.8907 | -0.944 | 1.0 | D | 0.875 | 0.862 | None | gnomAD-2.1.1 | 2.34E-05 | None | None | None | None | N | None | 6.61E-05 | 9.61E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.01E-05 | 0 |
| Y/C | 4675 |
Ig-29 |
70 | rs776394244 |
0.8907 | -0.944 | 1.0 | D | 0.875 | 0.862 | 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 |
| Y/C | 4675 |
Ig-29 |
70 | rs776394244 |
0.8907 | -0.944 | 1.0 | D | 0.875 | 0.862 | None | gnomAD-4.0.0 | 5.12455E-06 | None | None | None | None | N | None | 1.35604E-05 | 7.11997E-05 | None | 0 | 0 | None | 0 | 0 | 2.6066E-06 | 0 | 0 |
| Y/H | 4675 |
Ig-29 |
70 | None | 0.9689 | None | 1.0 | D | 0.792 | 0.881 | None | 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 |
| Y/C | 4770 |
Ig-30 |
71 | rs371552518 |
0.9857 | -0.404 | 1.0 | N | 0.858 | 0.801 | None | gnomAD-2.1.1 | 1.03546E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.26559E-04 | 0 |
| Y/C | 4770 |
Ig-30 |
71 | rs371552518 |
0.9857 | -0.404 | 1.0 | N | 0.858 | 0.801 | None | gnomAD-3.1.2 | 9.2E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.76382E-04 | 0 | 0 |
| Y/C | 4770 |
Ig-30 |
71 | rs371552518 |
0.9857 | -0.404 | 1.0 | N | 0.858 | 0.801 | None | gnomAD-4.0.0 | 1.05344E-04 | None | None | None | None | N | None | 2.66866E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4155E-04 | 0 | 1.60113E-05 |
| Y/H | 4770 |
Ig-30 |
71 | None | 0.996 | None | 1.0 | N | 0.792 | 0.689 | 0.566300147016 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | 4865 |
Ig-31 |
71 | None | 0.732 | None | 1.0 | D | 0.869 | 0.891 | 0.891075467594 | gnomAD-4.0.0 | 2.05263E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69835E-06 | 0 | 0 |
| Y/N | 4865 |
Ig-31 |
71 | None | 0.9547 | None | 1.0 | D | 0.882 | 0.895 | 0.923081794222 | gnomAD-4.0.0 | 2.05265E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69838E-06 | 0 | 0 |
| Y/C | 4958 |
Ig-32 |
71 | rs530572005 |
0.5836 | -1.526 | 1.0 | D | 0.873 | 0.883 | 0.853060321364 | gnomAD-2.1.1 | 1.62E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.57E-05 | 0 |
| Y/C | 4958 |
Ig-32 |
71 | rs530572005 |
0.5836 | -1.526 | 1.0 | D | 0.873 | 0.883 | 0.853060321364 | 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 |
| Y/C | 4958 |
Ig-32 |
71 | rs530572005 |
0.5836 | -1.526 | 1.0 | D | 0.873 | 0.883 | 0.853060321364 | gnomAD-4.0.0 | 4.09261E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.42577E-05 | 1.10064E-05 | 1.60323E-05 |
| Y/H | 4958 |
Ig-32 |
71 | None | 0.8813 | None | 1.0 | D | 0.785 | 0.868 | 0.734259233557 | 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 |
| Y/C | 5052 |
Ig-33 |
72 | rs950432591 |
0.8822 | None | 1.0 | D | 0.838 | 0.908 | 0.851131110001 | 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 |
| Y/C | 5052 |
Ig-33 |
72 | rs950432591 |
0.8822 | None | 1.0 | D | 0.838 | 0.908 | 0.851131110001 | gnomAD-4.0.0 | 6.57022E-06 | None | None | None | None | N | None | 2.41185E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/F | 5052 |
Ig-33 |
72 | rs950432591 |
0.1379 | None | 0.999 | D | 0.702 | 0.743 | 0.61690119055 | gnomAD-4.0.0 | 1.36864E-06 | None | None | None | None | N | None | 0 | 0 | None | 7.65697E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | 5331 |
Ig-36 |
71 | rs369924189 |
0.9288 | -0.998 | 0.999 | D | 0.824 | 0.785 | None | 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 |
| Y/C | 5331 |
Ig-36 |
71 | rs369924189 |
0.9288 | -0.998 | 0.999 | D | 0.824 | 0.785 | None | gnomAD-4.0.0 | 2.56281E-06 | None | None | None | None | N | None | 3.38123E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/L | 5427 |
Ig-37 |
71 | None | 0.9113 | None | 0.64 | N | 0.675 | 0.476 | 0.32714864917 | gnomAD-4.0.0 | 1.59221E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85915E-06 | 0 | 0 |
| F/V | 5427 |
Ig-37 |
71 | rs776697030 |
0.4201 | -1.695 | 0.896 | N | 0.769 | 0.445 | 0.620205906853 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 5.81E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/V | 5427 |
Ig-37 |
71 | rs776697030 |
0.4201 | -1.695 | 0.896 | N | 0.769 | 0.445 | 0.620205906853 | 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 |
| F/V | 5427 |
Ig-37 |
71 | rs776697030 |
0.4201 | -1.695 | 0.896 | N | 0.769 | 0.445 | 0.620205906853 | gnomAD-4.0.0 | 3.84521E-06 | None | None | None | None | N | None | 0 | 5.08837E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | 5520 |
Ig-38 |
71 | None | 0.8729 | None | 1.0 | D | 0.848 | 0.714 | 0.86915730788 | gnomAD-4.0.0 | 1.59156E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77469E-05 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | 5614 |
Ig-39 |
72 | rs2080651364 |
0.6557 | None | 0.999 | D | 0.824 | 0.743 | 0.885400995387 | 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 |
| Y/C | 5614 |
Ig-39 |
72 | rs2080651364 |
0.6557 | None | 0.999 | D | 0.824 | 0.743 | 0.885400995387 | gnomAD-4.0.0 | 6.57073E-06 | None | None | None | None | N | None | 2.4122E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | 5707 |
Ig-40 |
71 | rs533492533 |
0.9887 | -2.42 | 1.0 | D | 0.794 | 0.862 | 0.757359631849 | 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 |
| Y/H | 5707 |
Ig-40 |
71 | rs533492533 |
0.9887 | -2.42 | 1.0 | D | 0.794 | 0.862 | 0.757359631849 | 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 |
| Y/H | 5707 |
Ig-40 |
71 | rs533492533 |
0.9887 | -2.42 | 1.0 | D | 0.794 | 0.862 | 0.757359631849 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| Y/H | 5707 |
Ig-40 |
71 | rs533492533 |
0.9887 | -2.42 | 1.0 | D | 0.794 | 0.862 | 0.757359631849 | gnomAD-4.0.0 | 3.09832E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.49016E-05 | 0 |
| Y/C | 5800 |
Ig-41 |
71 | rs1470486137 |
0.9743 | -0.962 | 1.0 | D | 0.877 | 0.894 | 0.789156113237 | 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 |
| Y/H | 5800 |
Ig-41 |
71 | None | 0.9886 | None | 1.0 | D | 0.781 | 0.868 | 0.654469489857 | 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 |
| Y/N | 5800 |
Ig-41 |
71 | None | 0.9906 | None | 1.0 | D | 0.885 | 0.881 | 0.846485612073 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 3.66327E-05 |
| Y/C | 5893 |
Ig-42 |
71 | None | 0.9632 | None | 1.0 | D | 0.839 | 0.853 | 0.854161070543 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | 6082 |
Ig-44 |
71 | None | 0.9494 | None | 1.0 | D | 0.788 | 0.87 | 0.763028283385 | gnomAD-4.0.0 | 6.84412E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99596E-07 | 0 | 0 |
| Y/N | 6082 |
Ig-44 |
71 | rs777671590 |
0.9729 | -3.063 | 1.0 | D | 0.897 | 0.891 | 0.924445015539 | 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 |
| Y/N | 6082 |
Ig-44 |
71 | rs777671590 |
0.9729 | -3.063 | 1.0 | D | 0.897 | 0.891 | 0.924445015539 | gnomAD-4.0.0 | 2.05324E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69879E-06 | 0 | 0 |
| Y/H | 6176 |
Ig-45 |
72 | None | 0.8739 | None | 1.0 | D | 0.809 | 0.796 | 0.858506001042 | gnomAD-4.0.0 | 1.59136E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-05 | 0 |
| Y/C | 6269 |
Ig-46 |
71 | None | 0.9473 | None | 1.0 | D | 0.879 | 0.873 | 0.894440237169 | gnomAD-4.0.0 | 1.36863E-06 | None | None | None | None | N | None | 0 | 2.23734E-05 | None | 0 | 0 | None | 0 | 0 | 8.99575E-07 | 0 | 0 |
| Y/C | 6551 |
Ig-49 |
71 | None | 0.8977 | None | 1.0 | D | 0.873 | 0.902 | 0.815021892448 | 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 |
| Y/H | 6551 |
Ig-49 |
71 | None | 0.9598 | None | 1.0 | D | 0.775 | 0.884 | 0.681102614202 | gnomAD-4.0.0 | 1.59671E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.03361E-05 |
| Y/C | 6644 |
Ig-50 |
71 | rs375417679 |
0.8905 | None | 1.0 | D | 0.877 | 0.875 | None | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 2.94E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/C | 6644 |
Ig-50 |
71 | rs375417679 |
0.8905 | None | 1.0 | D | 0.877 | 0.875 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | 6644 |
Ig-50 |
71 | rs375417679 |
0.8905 | None | 1.0 | D | 0.877 | 0.875 | None | gnomAD-4.0.0 | 1.86266E-06 | None | None | None | None | N | None | 0 | 5.04117E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | 6831 |
Ig-52 |
71 | None | 0.9835 | None | 1.0 | D | 0.877 | 0.902 | 0.932833265402 | gnomAD-4.0.0 | 1.59302E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86139E-06 | 0 | 0 |
| Y/H | 7114 |
Ig-55 |
71 | rs754909782 |
0.9076 | -2.887 | 1.0 | D | 0.789 | 0.765 | 0.770276685214 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.3077E-04 | None | 0 | 0 | 0 |
| Y/H | 7114 |
Ig-55 |
71 | rs754909782 |
0.9076 | -2.887 | 1.0 | D | 0.789 | 0.765 | 0.770276685214 | gnomAD-4.0.0 | 3.42176E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.79791E-05 | 0 |
| Y/D | 7393 |
Ig-58 |
71 | rs1185905654 |
0.9957 | None | 1.0 | D | 0.881 | 0.857 | 0.893575084684 | 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 |
| Y/D | 7393 |
Ig-58 |
71 | rs1185905654 |
0.9957 | None | 1.0 | D | 0.881 | 0.857 | 0.893575084684 | gnomAD-4.0.0 | 6.57748E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47106E-05 | 0 | 0 |
| Y/C | 7585 |
Ig-60 |
71 | None | 0.9897 | None | 1.0 | D | 0.873 | 0.767 | 0.889184030382 | 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 |
| Y/S | 7679 |
Ig-61 |
72 | rs1052929607 |
0.9792 | None | 1.0 | D | 0.908 | 0.825 | 0.884691997466 | gnomAD-4.0.0 | 6.00162E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.56252E-06 | 0 | 0 |
| Y/C | 7866 |
Ig-63 |
72 | None | 0.9582 | None | 1.0 | D | 0.828 | 0.904 | 0.81853282109 | gnomAD-4.0.0 | 1.36864E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79913E-06 | 0 | 0 |
| Y/F | 7866 |
Ig-63 |
72 | rs368684128 |
0.192 | -0.808 | 0.999 | D | 0.678 | 0.765 | None | 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 |
| Y/F | 7866 |
Ig-63 |
72 | rs368684128 |
0.192 | -0.808 | 0.999 | D | 0.678 | 0.765 | None | 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 |
| Y/F | 7866 |
Ig-63 |
72 | rs368684128 |
0.192 | -0.808 | 0.999 | D | 0.678 | 0.765 | None | gnomAD-4.0.0 | 9.91682E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.35633E-05 | 0 | 0 |
| Y/C | 7959 |
Ig-64 |
71 | rs1442939015 |
0.9452 | -1.704 | 1.0 | D | 0.861 | 0.861 | 0.874922040637 | 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 |
| Y/C | 7959 |
Ig-64 |
71 | rs1442939015 |
0.9452 | -1.704 | 1.0 | D | 0.861 | 0.861 | 0.874922040637 | gnomAD-4.0.0 | 3.183E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86574E-05 | 0 |
| Y/D | 7959 |
Ig-64 |
71 | None | 0.9975 | None | 1.0 | D | 0.876 | 0.85 | 0.909055441313 | gnomAD-4.0.0 | 6.84253E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15945E-05 | 0 |
| Y/H | 7959 |
Ig-64 |
71 | rs1056651296 |
0.9642 | None | 1.0 | D | 0.781 | 0.823 | 0.762598717835 | gnomAD-4.0.0 | 6.84253E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99536E-07 | 0 | 0 |
| Y/H | 8055 |
Ig-65 |
71 | rs1160062455 |
0.662 | -2.559 | 0.999 | D | 0.729 | 0.863 | 0.78574696606 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.29668E-04 | 0 |
| Y/H | 8055 |
Ig-65 |
71 | rs1160062455 |
0.662 | -2.559 | 0.999 | D | 0.729 | 0.863 | 0.78574696606 | 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 |
| Y/H | 8055 |
Ig-65 |
71 | rs1160062455 |
0.662 | -2.559 | 0.999 | D | 0.729 | 0.863 | 0.78574696606 | gnomAD-4.0.0 | 6.40561E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.19657E-05 | 0 | 0 |
| Y/C | 8148 |
Ig-66 |
71 | rs1236449802 |
0.8157 | -0.866 | 1.0 | D | 0.837 | 0.901 | 0.898236699851 | 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 |
| Y/C | 8148 |
Ig-66 |
71 | rs1236449802 |
0.8157 | -0.866 | 1.0 | D | 0.837 | 0.901 | 0.898236699851 | gnomAD-4.0.0 | 4.10528E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39694E-06 | 0 | 0 |
| Y/N | 8148 |
Ig-66 |
71 | None | 0.9482 | None | 1.0 | D | 0.857 | 0.892 | 0.930053955015 | gnomAD-4.0.0 | 1.59133E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85851E-06 | 0 | 0 |
| Y/C | 8430 |
Ig-69 |
71 | rs2077680471 |
0.97 | None | 1.0 | D | 0.866 | 0.866 | 0.812860075013 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 2.88184E-04 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | 8430 |
Ig-69 |
71 | rs2077680471 |
0.97 | None | 1.0 | D | 0.866 | 0.866 | 0.812860075013 | gnomAD-4.0.0 | 2.02987E-06 | None | None | None | None | N | None | 0 | 0 | None | 1.15982E-04 | 0 | None | 0 | 0 | 1.20494E-06 | 0 | 0 |
| Y/H | 8430 |
Ig-69 |
71 | None | 0.9882 | None | 1.0 | D | 0.779 | 0.774 | 0.647653543843 | gnomAD-4.0.0 | 1.36893E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79929E-06 | 0 | 0 |
| Y/C | 8620 |
Ig-71 |
72 | None | 0.8165 | None | 1.0 | D | 0.873 | 0.872 | 0.87617659604 | gnomAD-4.0.0 | 1.59163E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85917E-06 | 0 | 0 |
| Y/C | 8713 |
Ig-72 |
71 | rs1294600680 |
0.9633 | -1.703 | 1.0 | D | 0.873 | 0.845 | 0.880723162625 | 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 |
| Y/C | 8713 |
Ig-72 |
71 | rs1294600680 |
0.9633 | -1.703 | 1.0 | D | 0.873 | 0.845 | 0.880723162625 | gnomAD-4.0.0 | 1.59176E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85917E-06 | 0 | 0 |
| Y/D | 8713 |
Ig-72 |
71 | None | 0.9983 | None | 1.0 | D | 0.874 | 0.828 | 0.914177712444 | 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 |
| Y/D | 8900 |
Ig-74 |
71 | None | 0.9962 | None | 1.0 | D | 0.893 | 0.838 | 0.924701767363 | gnomAD-4.0.0 | 8.41302E-06 | None | None | None | None | N | None | 6.34437E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.88469E-06 | 0 | 0 |
| Y/H | 9089 |
Ig-76 |
71 | rs794729633 |
0.9655 | -2.299 | 1.0 | D | 0.793 | 0.807 | 0.756873525501 | 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 |
| Y/H | 9089 |
Ig-76 |
71 | rs794729633 |
0.9655 | -2.299 | 1.0 | D | 0.793 | 0.807 | 0.756873525501 | gnomAD-4.0.0 | 1.16316E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.52909E-05 | 0 | 0 |
| Y/C | 9182 |
Ig-77 |
71 | rs777336514 |
0.9354 | -2.081 | 1.0 | D | 0.856 | 0.853 | 0.892133605444 | gnomAD-2.1.1 | 2.5E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.58423E-04 | None | 0 | None | 0 | 0 | 0 |
| Y/C | 9182 |
Ig-77 |
71 | rs777336514 |
0.9354 | -2.081 | 1.0 | D | 0.856 | 0.853 | 0.892133605444 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92753E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | 9182 |
Ig-77 |
71 | rs777336514 |
0.9354 | -2.081 | 1.0 | D | 0.856 | 0.853 | 0.892133605444 | gnomAD-4.0.0 | 8.96716E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.69681E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Y/F | 9182 |
Ig-77 |
71 | rs777336514 |
0.2101 | -0.833 | 0.434 | D | 0.436 | 0.684 | 0.570825458115 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| Y/C | 9275 |
Ig-78 |
71 | rs72648996 |
0.9601 | -1.453 | 1.0 | D | 0.889 | 0.921 | 0.883779577115 | gnomAD-2.1.1 | 6.43E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.4055E-04 | 0 |
| Y/C | 9275 |
Ig-78 |
71 | rs72648996 |
0.9601 | -1.453 | 1.0 | D | 0.889 | 0.921 | 0.883779577115 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.82E-05 | 0 | 0 |
| Y/C | 9275 |
Ig-78 |
71 | rs72648996 |
0.9601 | -1.453 | 1.0 | D | 0.889 | 0.921 | 0.883779577115 |
Taylor (2011)
| None |
ARVC
|
het | None | None | N | Genetic analysis of TTN in 38 ARVC families, incomplete penetrance | None | None | None | None | None | None | None | None | None | None | None |
| Y/C | 9275 |
Ig-78 |
71 | rs72648996 |
0.9601 | -1.453 | 1.0 | D | 0.889 | 0.921 | 0.883779577115 | gnomAD-4.0.0 | 4.95845E-05 | None | None | None | None | N | None | 2.66959E-05 | 0 | None | 0 | 0 | None | 1.56211E-05 | 0 | 6.44267E-05 | 0 | 1.60128E-05 |
| Y/S | 9275 |
Ig-78 |
71 | None | 0.994 | None | 1.0 | D | 0.905 | 0.904 | 0.903802506144 | gnomAD-4.0.0 | 1.36873E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7992E-06 | 0 | 0 |
| Y/H | 9467 |
Ig-80 |
71 | rs2076528608 |
0.9783 | None | 1.0 | None | 0.777 | 0.783 | 0.792123652096 | gnomAD-4.0.0 | 1.36866E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79888E-06 | 0 | 0 |
| Y/C | 9564 |
Ig-81 |
72 | rs2076368966 |
0.8894 | None | 1.0 | None | 0.87 | 0.873 | 0.885172764854 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06782E-04 | 0 |
| Y/C | 9564 |
Ig-81 |
72 | rs2076368966 |
0.8894 | None | 1.0 | None | 0.87 | 0.873 | 0.885172764854 | gnomAD-4.0.0 | 6.5684E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.06782E-04 | 0 |
| Y/H | 9769 |
Ig-83 |
72 | rs778087108 |
0.9923 | -2.377 | 1.0 | None | 0.799 | 0.68 | 0.704435457997 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 1.23977E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/H | 9769 |
Ig-83 |
72 | rs778087108 |
0.9923 | -2.377 | 1.0 | None | 0.799 | 0.68 | 0.704435457997 | 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 |
| Y/H | 9769 |
Ig-83 |
72 | rs778087108 |
0.9923 | -2.377 | 1.0 | None | 0.799 | 0.68 | 0.704435457997 | gnomAD-4.0.0 | 3.09822E-06 | None | None | None | None | N | None | 4.00449E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69509E-06 | 0 | 0 |
| Y/F | 9971 |
Ig-84 |
72 | None | 0.1347 | None | 0.008 | None | 0.451 | 0.454 | 0.48087575253 | gnomAD-4.0.0 | 1.59184E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.4108E-04 | 0 | 0 | 0 |
| Y/H | 9971 |
Ig-84 |
72 | rs1471839553 |
0.9858 | -2.225 | 0.983 | None | 0.734 | 0.81 | 0.636259158049 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| Y/H | 10147 |
Ig-86 |
70 | None | 0.9984 | None | 1.0 | None | 0.835 | 0.579 | 0.315314060047 | 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 |
| Y/N | 13756 |
Ig-87 |
73 | rs1314692821 |
0.9964 | -2.646 | 1.0 | D | 0.898 | 0.899 | 0.919913723198 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 0 | 0 |
| Y/F | 13850 |
Ig-88 |
71 | None | 0.3606 | None | 0.999 | D | 0.543 | 0.473 | 0.376745185316 | 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 |
| Y/H | 13850 |
Ig-88 |
71 | rs774281208 |
0.9941 | -2.172 | 1.0 | D | 0.804 | 0.562 | 0.361758802978 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/H | 13850 |
Ig-88 |
71 | rs774281208 |
0.9941 | -2.172 | 1.0 | D | 0.804 | 0.562 | 0.361758802978 | gnomAD-4.0.0 | 1.59305E-06 | None | None | None | None | N | None | 5.6638E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | 14122 |
Ig-91 |
69 | rs756627487 |
0.9422 | -1.239 | 1.0 | D | 0.877 | 0.707 | None | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| Y/C | 14122 |
Ig-91 |
69 | rs756627487 |
0.9422 | -1.239 | 1.0 | D | 0.877 | 0.707 | None | gnomAD-4.0.0 | 6.16064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19766E-06 | 1.1598E-05 | 0 |
| I/T | 14211 |
Ig-92 |
70 | None | 0.9726 | None | 1.0 | D | 0.847 | 0.515 | 0.631293924618 | gnomAD-4.0.0 | 1.59212E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77485E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/F | 14388 |
Ig-94 |
70 | None | 0.5986 | None | 0.449 | N | 0.808 | 0.172 | 0.335910606209 | gnomAD-4.0.0 | 6.84448E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52398E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | 14388 |
Ig-94 |
70 | rs1385503559 |
0.087 | -0.038 | 0.001 | N | 0.287 | 0.079 | 0.16115917748 | 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 |
| V/I | 14388 |
Ig-94 |
70 | rs1385503559 |
0.087 | -0.038 | 0.001 | N | 0.287 | 0.079 | 0.16115917748 | gnomAD-4.0.0 | 6.84448E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99724E-07 | 0 | 0 |
| Y/H | 14477 |
Ig-95 |
70 | None | 0.9742 | None | 1.0 | D | 0.794 | 0.864 | 0.857532584068 | gnomAD-4.0.0 | 3.18445E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85986E-06 | 1.43336E-05 | 0 |
| I/L | 14566 |
Ig-96 |
70 | rs1415295161 |
0.2956 | None | 0.993 | D | 0.539 | 0.634 | 0.711098882349 | gnomAD-4.0.0 | 1.30414E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.53222E-05 | 0 | 3.32325E-05 |
| V/M | 14744 |
Ig-98 |
70 | rs1465329711 |
0.5588 | None | 0.961 | D | 0.674 | 0.274 | 0.341226946553 | 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 |
| V/M | 14744 |
Ig-98 |
70 | rs1465329711 |
0.5588 | None | 0.961 | D | 0.674 | 0.274 | 0.341226946553 | gnomAD-4.0.0 | 2.47987E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39142E-06 | 0 | 0 |
| V/I | 14833 |
Ig-99 |
69 | rs373168798 |
0.0909 | -0.313 | 0.997 | N | 0.677 | 0.228 | None | gnomAD-2.1.1 | 4.73E-05 | None | None | None | None | N | None | 5.06971E-04 | 2.94E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | 14833 |
Ig-99 |
69 | rs373168798 |
0.0909 | -0.313 | 0.997 | N | 0.677 | 0.228 | None | gnomAD-3.1.2 | 2.0409E-04 | None | None | None | None | N | None | 7.24428E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.79386E-04 |
| V/I | 14833 |
Ig-99 |
69 | rs373168798 |
0.0909 | -0.313 | 0.997 | N | 0.677 | 0.228 | None | gnomAD-4.0.0 | 3.79834E-05 | None | None | None | None | N | None | 7.81061E-04 | 1.70097E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.21812E-05 |
| Y/D | 14922 |
Ig-100 |
70 | rs1576599425 |
0.9964 | None | 1.0 | D | 0.887 | 0.65 | 0.372268306217 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94477E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | 14922 |
Ig-100 |
70 | None | 0.9799 | None | 1.0 | D | 0.807 | 0.576 | 0.362960570912 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62501E-06 | 0 | 0 |
| Y/C | 15100 |
Ig-102 |
70 | None | 0.9073 | None | 0.998 | D | 0.854 | 0.814 | 0.939711833812 | 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 |
| Y/C | 15277 |
Ig-104 |
70 | rs1274378566 |
0.866 | -1.343 | 0.976 | D | 0.858 | 0.792 | 0.663428526802 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| Y/C | 15277 |
Ig-104 |
70 | rs1274378566 |
0.866 | -1.343 | 0.976 | D | 0.858 | 0.792 | 0.663428526802 | gnomAD-4.0.0 | 1.59329E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86266E-06 | 0 | 0 |
| Y/H | 15549 |
Ig-107 |
70 | None | 0.9918 | None | 1.0 | D | 0.808 | 0.905 | 0.775651754127 | gnomAD-4.0.0 | 1.59465E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86477E-06 | 0 | 0 |
| Y/H | 16033 |
Ig-109 |
66 | None | 0.968 | None | 1.0 | D | 0.787 | 0.857 | 0.645390446725 | gnomAD-4.0.0 | 1.59323E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43328E-05 | 0 |
| Y/C | 16329 |
Ig-110 |
68 | rs1456507512 |
0.963 | -0.707 | 1.0 | D | 0.823 | 0.855 | 0.896210243133 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.99E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/C | 16329 |
Ig-110 |
68 | rs1456507512 |
0.963 | -0.707 | 1.0 | D | 0.823 | 0.855 | 0.896210243133 | gnomAD-4.0.0 | 2.73902E-06 | None | None | None | None | N | None | 0 | 0 | None | 7.66754E-05 | 0 | None | 0 | 0 | 8.99892E-07 | 0 | 1.65854E-05 |
| Y/C | 17025 |
Ig-111 |
71 | None | 0.8825 | None | 1.0 | D | 0.854 | 0.793 | 0.879908228484 | 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 |
| Y/H | 17347 |
Ig-112 |
97 | rs1488285179 |
0.9157 | -1.818 | 0.667 | D | 0.727 | 0.794 | 0.631704462594 | gnomAD-2.1.1 | 4.63E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1E-05 | 0 |
| Y/H | 17347 |
Ig-112 |
97 | rs1488285179 |
0.9157 | -1.818 | 0.667 | D | 0.727 | 0.794 | 0.631704462594 | gnomAD-4.0.0 | 1.69485E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.00645E-06 | 0 | 0 |
| Y/C | 17742 |
Ig-113 |
66 | None | 0.9682 | None | 1.0 | D | 0.819 | 0.821 | 0.892054323885 | gnomAD-4.0.0 | 1.59243E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02773E-05 |
| Y/F | 18043 |
Ig-114 |
76 | None | 0.1538 | None | 0.999 | D | 0.691 | 0.777 | 0.68707659006 | 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 |
| Y/H | 18043 |
Ig-114 |
76 | rs757392311 |
0.981 | -2.12 | 1.0 | D | 0.799 | 0.862 | 0.75654253001 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.68E-05 | 0 | 0 |
| Y/H | 18043 |
Ig-114 |
76 | rs757392311 |
0.981 | -2.12 | 1.0 | D | 0.799 | 0.862 | 0.75654253001 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.41E-05 | 0 | 0 | 0 | 0 |
| Y/H | 18043 |
Ig-114 |
76 | rs757392311 |
0.981 | -2.12 | 1.0 | D | 0.799 | 0.862 | 0.75654253001 | gnomAD-4.0.0 | 6.58051E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.41265E-05 | 0 | 0 | 0 | 0 |
| Y/C | 18457 |
Ig-115 |
76 | None | 0.9875 | None | 1.0 | D | 0.846 | 0.854 | 0.7991872175 | gnomAD-4.0.0 | 2.74262E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.60081E-06 | 0 | 0 |
| Y/C | 18762 |
Ig-116 |
75 | rs2052736042 |
0.9037 | None | 1.0 | D | 0.874 | 0.898 | 0.844248507264 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| Y/C | 18762 |
Ig-116 |
75 | rs2052736042 |
0.9037 | None | 1.0 | D | 0.874 | 0.898 | 0.844248507264 | gnomAD-4.0.0 | 2.48257E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48484E-07 | 3.31397E-05 | 0 |
| Y/H | 18762 |
Ig-116 |
75 | None | 0.9415 | None | 1.0 | D | 0.805 | 0.905 | 0.730229562664 | 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 |
| Y/N | 18762 |
Ig-116 |
75 | None | 0.9832 | None | 1.0 | D | 0.885 | 0.906 | 0.88941892458 | 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 |
| Y/C | 19161 |
Ig-117 |
67 | rs754992982 |
0.9349 | -1.697 | 1.0 | D | 0.854 | 0.868 | 0.845456798365 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.92E-06 | 0 |
| Y/C | 19161 |
Ig-117 |
67 | rs754992982 |
0.9349 | -1.697 | 1.0 | D | 0.854 | 0.868 | 0.845456798365 | gnomAD-4.0.0 | 3.18544E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86599E-05 | 0 |
| Y/N | 19855 |
Ig-119 |
66 | rs779395388 |
0.9933 | -3.275 | 1.0 | D | 0.887 | 0.877 | 0.886385070211 | 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 |
| Y/N | 19855 |
Ig-119 |
66 | rs779395388 |
0.9933 | -3.275 | 1.0 | D | 0.887 | 0.877 | 0.886385070211 | gnomAD-4.0.0 | 6.36787E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.57839E-06 | 0 | 3.02499E-05 |
| Y/S | 20547 |
Ig-121 |
69 | None | 0.9987 | None | 1.0 | D | 0.886 | 0.805 | 0.871684563124 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-06 | 0 | 0 |
| Y/H | 21537 |
Ig-124 |
69 | None | 0.9381 | None | 1.0 | D | 0.788 | 0.818 | 0.713973972888 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.75482E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | 21934 |
Ig-125 |
69 | None | 0.9372 | None | 0.999 | D | 0.825 | 0.799 | 0.801429400344 | gnomAD-4.0.0 | 7.20203E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.87513E-06 | 0 | 0 |
| Y/D | 21934 |
Ig-125 |
69 | rs786205385 |
0.9986 | None | 0.967 | D | 0.867 | 0.797 | 0.901314349755 | gnomAD-4.0.0 | 3.28938E-06 | None | None | None | None | N | None | 0 | 2.37338E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.10617E-05 |
| Y/H | 21934 |
Ig-125 |
69 | None | 0.9765 | None | 0.994 | D | 0.699 | 0.806 | 0.750646069438 | gnomAD-4.0.0 | 3.28938E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.9102E-06 | 0 | 0 |
| Y/C | 22332 |
Ig-126 |
68 | rs1481543528 |
0.9901 | None | 1.0 | D | 0.828 | 0.884 | 0.864006174247 | gnomAD-4.0.0 | 1.59242E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86051E-06 | 0 | 0 |
| Y/H | 22332 |
Ig-126 |
68 | None | 0.9923 | None | 1.0 | D | 0.775 | 0.882 | 0.749761708737 | gnomAD-4.0.0 | 1.36885E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73732E-04 | 8.99701E-07 | 0 | 0 |
| Y/S | 22332 |
Ig-126 |
68 | rs1481543528 |
0.9979 | -2.972 | 1.0 | D | 0.855 | 0.866 | 0.885873051839 | 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 |
| Y/S | 22332 |
Ig-126 |
68 | rs1481543528 |
0.9979 | -2.972 | 1.0 | D | 0.855 | 0.866 | 0.885873051839 | gnomAD-4.0.0 | 1.59242E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77701E-05 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | 22621 |
Ig-127 |
62 | None | 0.9633 | None | 1.0 | D | 0.772 | 0.793 | 0.810653237695 | gnomAD-4.0.0 | 1.59198E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88267E-05 | 0 | 0 | 0 | 0 |
| Y/C | 23018 |
Ig-128 |
69 | rs1237834164 |
0.9496 | -1.679 | 1.0 | D | 0.815 | 0.902 | 0.847703497246 | 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 |
| Y/C | 23018 |
Ig-128 |
69 | rs1237834164 |
0.9496 | -1.679 | 1.0 | D | 0.815 | 0.902 | 0.847703497246 | gnomAD-4.0.0 | 1.36882E-06 | None | None | None | None | N | None | 0 | 2.23694E-05 | None | 0 | 0 | None | 0 | 0 | 8.9963E-07 | 0 | 0 |
| Y/H | 23018 |
Ig-128 |
69 | rs748860763 |
0.9749 | -2.08 | 1.0 | D | 0.79 | 0.884 | 0.725955644356 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 1.78E-05 | 0 |
| Y/H | 23018 |
Ig-128 |
69 | rs748860763 |
0.9749 | -2.08 | 1.0 | D | 0.79 | 0.884 | 0.725955644356 | gnomAD-4.0.0 | 7.52854E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 3.47102E-04 | 6.29739E-06 | 2.31895E-05 | 0 |
| Y/S | 24100 |
Ig-131 |
72 | None | 0.9901 | None | 0.051 | D | 0.651 | 0.638 | 0.80158762225 | gnomAD-4.0.0 | 4.78495E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.34168E-05 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | 25579 |
Ig-135 |
66 | rs1707280961 |
0.9834 | None | 1.0 | D | 0.829 | 0.871 | 0.80865110737 | 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 |
| Y/C | 25579 |
Ig-135 |
66 | rs1707280961 |
0.9834 | None | 1.0 | D | 0.829 | 0.871 | 0.80865110737 | gnomAD-4.0.0 | 5.07512E-06 | None | None | None | None | N | None | 5.24347E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.20495E-06 | 0 | 3.40252E-05 |
| Y/H | 25579 |
Ig-135 |
66 | rs1254023475 |
0.9892 | -1.824 | 1.0 | D | 0.802 | 0.88 | 0.675001386424 | 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 |
| Y/H | 25579 |
Ig-135 |
66 | rs1254023475 |
0.9892 | -1.824 | 1.0 | D | 0.802 | 0.88 | 0.675001386424 | gnomAD-4.0.0 | 1.36877E-06 | None | None | None | None | N | None | 0 | 2.23734E-05 | None | 0 | 0 | None | 0 | 0 | 8.99616E-07 | 0 | 0 |
| Y/H | 25868 |
Ig-136 |
71 | rs755691336 |
0.9745 | -2.193 | 1.0 | D | 0.785 | 0.826 | 0.670162060137 | gnomAD-2.1.1 | 4.65E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.17093E-04 | None | 3.27E-05 | None | 0 | 0 | 0 |
| Y/H | 25868 |
Ig-136 |
71 | rs755691336 |
0.9745 | -2.193 | 1.0 | D | 0.785 | 0.826 | 0.670162060137 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.87147E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | 25868 |
Ig-136 |
71 | rs755691336 |
0.9745 | -2.193 | 1.0 | D | 0.785 | 0.826 | 0.670162060137 | gnomAD-4.0.0 | 1.36367E-05 | None | None | None | None | N | None | 1.33558E-05 | 0 | None | 0 | 3.79312E-04 | None | 0 | 0 | 8.47774E-07 | 3.2941E-05 | 0 |
| Y/H | 26950 |
Ig-139 |
71 | rs1705314852 |
0.9916 | None | 1.0 | D | 0.795 | 0.836 | 0.760680927031 | gnomAD-4.0.0 | 9.54949E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.66454E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | 27347 |
Ig-140 |
70 | None | 0.9129 | None | 1.0 | D | 0.865 | 0.771 | 0.805993168017 | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31252E-06 | 0 | 0 |
| Y/H | 27347 |
Ig-140 |
70 | None | 0.9564 | None | 0.998 | D | 0.706 | 0.819 | 0.676191613372 | gnomAD-4.0.0 | 1.59125E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85847E-06 | 0 | 0 |
| Y/H | 27744 |
Ig-141 |
69 | None | 0.9879 | None | 1.0 | D | 0.802 | 0.844 | 0.75324538058 | gnomAD-4.0.0 | 1.59196E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85878E-06 | 0 | 0 |
| Y/C | 28033 |
Ig-142 |
71 | rs765843742 |
0.8997 | -1.794 | 1.0 | D | 0.824 | 0.788 | 0.892957069879 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| Y/C | 28033 |
Ig-142 |
71 | rs765843742 |
0.8997 | -1.794 | 1.0 | D | 0.824 | 0.788 | 0.892957069879 | gnomAD-4.0.0 | 2.0532E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69868E-06 | 0 | 0 |
| Y/F | 28033 |
Ig-142 |
71 | None | 0.2217 | None | 0.999 | D | 0.693 | 0.753 | 0.74761239571 | gnomAD-4.0.0 | 6.84399E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9956E-07 | 0 | 0 |
| Y/S | 28033 |
Ig-142 |
71 | None | 0.985 | None | 1.0 | D | 0.849 | 0.793 | 0.910466030853 | gnomAD-4.0.0 | 6.84399E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9956E-07 | 0 | 0 |
| Y/N | 28823 |
Ig-144 |
69 | rs1702876346 |
0.993 | None | 1.0 | D | 0.85 | 0.879 | 0.857373418812 | 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 |
| Y/N | 28823 |
Ig-144 |
69 | rs1702876346 |
0.993 | None | 1.0 | D | 0.85 | 0.879 | 0.857373418812 | gnomAD-4.0.0 | 3.7205E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23965E-06 | 0 | 1.602E-05 |
| Y/D | 29115 |
Ig-145 |
71 | None | 0.9959 | None | 1.0 | D | 0.867 | 0.815 | 0.904560257206 | gnomAD-4.0.0 | 6.84212E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99433E-07 | 0 | 0 |
| Y/H | 29115 |
Ig-145 |
71 | rs1181280302 |
0.952 | -2.249 | 1.0 | D | 0.797 | 0.839 | 0.734356017273 | 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 |
| Y/H | 29115 |
Ig-145 |
71 | rs1181280302 |
0.952 | -2.249 | 1.0 | D | 0.797 | 0.839 | 0.734356017273 | gnomAD-4.0.0 | 5.47369E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19546E-06 | 0 | 0 |
| Y/C | 29511 |
Ig-146 |
68 | None | 0.8558 | None | 1.0 | D | 0.879 | 0.872 | 0.823000266687 | gnomAD-4.0.0 | 7.95672E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.57363E-06 | 2.86541E-05 | 0 |
| Y/H | 29511 |
Ig-146 |
68 | rs541353288 |
0.9268 | -2.356 | 1.0 | D | 0.795 | 0.894 | 0.696206915315 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.8E-05 | None | 0 | 0 | 0 |
| Y/H | 29511 |
Ig-146 |
68 | rs541353288 |
0.9268 | -2.356 | 1.0 | D | 0.795 | 0.894 | 0.696206915315 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07383E-04 | 0 |
| Y/H | 29511 |
Ig-146 |
68 | rs541353288 |
0.9268 | -2.356 | 1.0 | D | 0.795 | 0.894 | 0.696206915315 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| Y/H | 29511 |
Ig-146 |
68 | rs541353288 |
0.9268 | -2.356 | 1.0 | D | 0.795 | 0.894 | 0.696206915315 | gnomAD-4.0.0 | 3.84273E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.02059E-05 | 0 |
| Y/H | 30202 |
Ig-148 |
71 | rs1319107729 |
0.9858 | -2.251 | 1.0 | D | 0.785 | 0.86 | 0.76236827946 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 3.3E-05 | None | 0 | 0 | 0 |
| Y/H | 30202 |
Ig-148 |
71 | rs1319107729 |
0.9858 | -2.251 | 1.0 | D | 0.785 | 0.86 | 0.76236827946 | gnomAD-4.0.0 | 4.79191E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52054E-05 | None | 0 | 0 | 8.99687E-07 | 5.81247E-05 | 0 |
| Y/H | 30597 |
Ig-149 |
66 | None | 0.9572 | None | 1.0 | D | 0.795 | 0.831 | 0.763337080039 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 1.01626E-03 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| Y/N | 30597 |
Ig-149 |
66 | None | 0.9861 | None | 1.0 | D | 0.876 | 0.834 | 0.933793615972 | 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 |
| Y/H | 30994 |
Ig-150 |
68 | rs1698158751 |
0.993 | None | 0.999 | D | 0.72 | 0.913 | 0.772078283374 | gnomAD-4.0.0 | 6.8418E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99447E-07 | 0 | 0 |
| Y/N | 30994 |
Ig-150 |
68 | None | 0.995 | None | 0.999 | D | 0.792 | 0.868 | 0.925938900894 | gnomAD-4.0.0 | 6.8418E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99447E-07 | 0 | 0 |
| Y/H | 32083 |
Ig-153 |
67 | rs1695809971 |
0.9939 | None | 1.0 | D | 0.801 | 0.817 | 0.767440773815 | 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 |
| Y/H | 32083 |
Ig-153 |
67 | rs1695809971 |
0.9939 | None | 1.0 | D | 0.801 | 0.817 | 0.767440773815 | gnomAD-4.0.0 | 6.57791E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47076E-05 | 0 | 0 |
| Y/C | 32377 |
Ig-154 |
71 | None | 0.9822 | None | 0.997 | D | 0.823 | 0.843 | 0.746720708991 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | 32377 |
Ig-154 |
71 | rs1695198854 |
0.9919 | None | 0.032 | D | 0.523 | 0.723 | 0.441844919209 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-06 | 0 | 0 |
| Y/C | 32773 |
Ig-155 |
66 | rs1693456839 |
0.9502 | None | 1.0 | D | 0.818 | 0.72 | 0.787935859653 | 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 |
| Y/C | 32773 |
Ig-155 |
66 | rs1693456839 |
0.9502 | None | 1.0 | D | 0.818 | 0.72 | 0.787935859653 | gnomAD-4.0.0 | 6.57341E-06 | None | None | None | None | N | None | 2.41336E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | 33171 |
Ig-156 |
71 | rs532644861 |
0.9827 | -2.248 | 1.0 | D | 0.811 | 0.838 | 0.767459680962 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/H | 33171 |
Ig-156 |
71 | rs532644861 |
0.9827 | -2.248 | 1.0 | D | 0.811 | 0.838 | 0.767459680962 | 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 |
| Y/H | 33171 |
Ig-156 |
71 | rs532644861 |
0.9827 | -2.248 | 1.0 | D | 0.811 | 0.838 | 0.767459680962 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| Y/H | 33171 |
Ig-156 |
71 | rs532644861 |
0.9827 | -2.248 | 1.0 | D | 0.811 | 0.838 | 0.767459680962 | gnomAD-4.0.0 | 6.56607E-06 | None | None | None | None | N | None | 2.40523E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | 33268 |
Ig-157 |
66 | None | 0.9739 | None | 1.0 | D | 0.771 | 0.832 | 0.86700590744 | 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 |
| Y/H | 33268 |
Ig-157 |
66 | None | 0.9891 | None | 1.0 | D | 0.798 | 0.859 | 0.735362511717 | 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 |
| Y/H | 33568 |
Ig-158 |
73 | None | 0.9919 | None | 1.0 | D | 0.805 | 0.877 | 0.846827325628 | gnomAD-4.0.0 | 1.65241E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.51529E-05 | 0 |
| Y/C | 33667 |
Ig-159 |
72 | rs1296330425 |
0.959 | -0.796 | 1.0 | D | 0.891 | 0.818 | 0.892787688341 | 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 |
| Y/C | 33667 |
Ig-159 |
72 | rs1296330425 |
0.959 | -0.796 | 1.0 | D | 0.891 | 0.818 | 0.892787688341 | gnomAD-4.0.0 | 1.59129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 0 |
| Y/H | 34207 |
Ig-160 |
71 | None | 0.9789 | None | 1.0 | D | 0.785 | 0.87 | 0.601041065218 | 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 |
| Y/C | 34331 |
Ig-161 |
74 | rs765213170 |
0.9879 | -1.115 | 1.0 | D | 0.89 | 0.711 | 0.813355634935 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| Y/C | 34331 |
Ig-161 |
74 | rs765213170 |
0.9879 | -1.115 | 1.0 | D | 0.89 | 0.711 | 0.813355634935 | 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 |
| Y/C | 34331 |
Ig-161 |
74 | rs765213170 |
0.9879 | -1.115 | 1.0 | D | 0.89 | 0.711 | 0.813355634935 | gnomAD-4.0.0 | 1.11531E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.35606E-05 | 0 | 3.20184E-05 |
| Y/D | 34331 |
Ig-161 |
74 | None | 0.9989 | None | 0.999 | D | 0.908 | 0.76 | 0.87212143462 | gnomAD-4.0.0 | 1.59099E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85762E-06 | 0 | 0 |
| Y/F | 34331 |
Ig-161 |
74 | rs765213170 |
0.3686 | None | 0.117 | N | 0.445 | 0.518 | 0.41518383557 | 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 |
| Y/F | 34331 |
Ig-161 |
74 | rs765213170 |
0.3686 | None | 0.117 | N | 0.445 | 0.518 | 0.41518383557 | gnomAD-4.0.0 | 6.56806E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.40911E-05 | 0 | 0 | 0 | 0 |
| Y/H | 35012 |
Ig-163 |
71 | None | 0.9935 | None | 1.0 | D | 0.79 | 0.897 | 0.714837780597 | 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 |
| Y/C | 35199 |
Ig-164 |
71 | rs759304538 |
0.8035 | -1.095 | 1.0 | D | 0.899 | 0.826 | 0.777932132617 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| Y/C | 35199 |
Ig-164 |
71 | rs759304538 |
0.8035 | -1.095 | 1.0 | D | 0.899 | 0.826 | 0.777932132617 | gnomAD-4.0.0 | 1.59093E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85747E-06 | 0 | 0 |
| Y/H | 35199 |
Ig-164 |
71 | rs1056456150 |
0.9312 | None | 0.999 | D | 0.795 | 0.815 | 0.632874758761 | 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 |
| Y/H | 35199 |
Ig-164 |
71 | rs1056456150 |
0.9312 | None | 0.999 | D | 0.795 | 0.815 | 0.632874758761 | gnomAD-4.0.0 | 6.57566E-06 | None | None | None | None | N | None | 0 | 6.54965E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | 35357 |
Ig-165 |
72 | rs1649011462 |
0.9878 | None | 1.0 | D | 0.785 | 0.887 | 0.720476626281 | 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 |
| Y/H | 35357 |
Ig-165 |
72 | rs1649011462 |
0.9878 | None | 1.0 | D | 0.785 | 0.887 | 0.720476626281 | gnomAD-4.0.0 | 6.57047E-06 | None | None | None | None | N | None | 0 | 6.54536E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/D | 35490 |
Ig-166 |
71 | None | 0.993 | None | 0.939 | D | 0.892 | 0.785 | 0.88947283604 | gnomAD-4.0.0 | 2.05798E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73611E-04 | 0 | 1.17952E-05 | 1.65937E-05 |
| Y/H | 35490 |
Ig-166 |
71 | rs199663911 |
0.9041 | -2.503 | 0.939 | D | 0.701 | 0.665 | None | gnomAD-2.1.1 | 1.62791E-04 | None | None | None | None | N | None | 0 | 0 | None | 3.51906E-03 | 0 | None | 0 | None | 0 | 5.5E-05 | 2.83447E-04 |
| Y/H | 35490 |
Ig-166 |
71 | rs199663911 |
0.9041 | -2.503 | 0.939 | D | 0.701 | 0.665 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 1.7301E-03 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| Y/H | 35490 |
Ig-166 |
71 | rs199663911 |
0.9041 | -2.503 | 0.939 | D | 0.701 | 0.665 | None | gnomAD-4.0.0 | 7.01884E-05 | None | None | None | None | N | None | 0 | 0 | None | 2.84842E-03 | 0 | None | 0 | 0 | 1.95087E-05 | 1.1159E-05 | 8.01822E-05 |
| Y/N | 35490 |
Ig-166 |
71 | rs199663911 |
0.9626 | -2.789 | 0.939 | D | 0.878 | 0.756 | 0.890244917997 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.64E-05 | None | 0 | None | 0 | 0 | 0 |
| Y/N | 35490 |
Ig-166 |
71 | rs199663911 |
0.9626 | -2.789 | 0.939 | D | 0.878 | 0.756 | 0.890244917997 | gnomAD-4.0.0 | 6.85993E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52653E-05 | None | 0 | 0 | 0 | 0 | 0 |
| L/P | 35675 |
Ig-167 |
69 | None | 0.9914 | None | 0.999 | N | 0.876 | 0.543 | 0.69911688974 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | 35772 |
Ig-168 |
71 | None | 0.9886 | None | 1.0 | D | 0.762 | 0.89 | 0.643831731133 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62502E-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.