Structural position:

  • Domain Type: Ig
  • Aligned Position: 131
  • Secondary Structure Element:
  • Secondary Structure Region:

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
D/E 60 Ig-1 55 None 0.2253 None None N 0.266 0.087 0.132336055621 gnomAD-4.0.0 2.05221E-06 None None None 0.089(TCAP) N None 0 0 None 0 0 None 0 0 2.69788E-06 0 0
D/N 60 Ig-1 55 rs35683768 0.1088 0.317 0.308 N 0.443 0.18 0.12205267543 gnomAD-2.1.1 1.59E-05 None None None -1.221(TCAP) N None 0 0 None 0 5.45E-05 None 0 None 0 2.64E-05 0
D/N 60 Ig-1 55 rs35683768 0.1088 0.317 0.308 N 0.443 0.18 0.12205267543 gnomAD-3.1.2 6.57E-06 None None None -1.221(TCAP) N None 2.42E-05 0 0 0 0 None 0 0 0 0 0
D/N 60 Ig-1 55 rs35683768 0.1088 0.317 0.308 N 0.443 0.18 0.12205267543 gnomAD-4.0.0 1.17724E-05 None None None -1.221(TCAP) N None 4.00684E-05 0 None 0 2.22876E-05 None 0 0 1.01694E-05 2.19592E-05 1.60036E-05
D/V 60 Ig-1 55 rs754533155 0.5969 0.36 0.281 D 0.526 0.356 0.451118754121 gnomAD-2.1.1 3.98E-06 None None None 0.313(TCAP) N None 0 0 None 0 0 None 0 None 0 8.8E-06 0
D/V 60 Ig-1 55 rs754533155 0.5969 0.36 0.281 D 0.526 0.356 0.451118754121 gnomAD-4.0.0 1.59052E-06 None None None 0.313(TCAP) N None 0 0 None 0 0 None 0 0 2.85649E-06 0 0
D/Y 60 Ig-1 55 rs35683768 0.5253 0.073 0.992 N 0.511 0.344 None gnomAD-2.1.1 1.46299E-02 None None None 0.118(TCAP) N None 6.98038E-02 1.13438E-02 None 4.82532E-03 9.04068E-03 None 1.36203E-02 None 1.73553E-02 6.38423E-03 1.16311E-02
D/Y 60 Ig-1 55 rs35683768 0.5253 0.073 0.992 N 0.511 0.344 None gnomAD-3.1.2 2.60441E-02 None None None 0.118(TCAP) N None 6.73579E-02 2.57165E-02 0 4.89631E-03 1.04126E-02 None 1.82007E-02 6.32911E-03 5.85053E-03 1.34799E-02 2.48566E-02
D/Y 60 Ig-1 55 rs35683768 0.5253 0.073 0.992 N 0.511 0.344 None 1000 genomes 2.89537E-02 None None None 0.118(TCAP) N None 7.19E-02 2.02E-02 None None 1.59E-02 8.9E-03 None None None 1.12E-02 None
D/Y 60 Ig-1 55 rs35683768 0.5253 0.073 0.992 N 0.511 0.344 None gnomAD-4.0.0 1.03547E-02 None None None 0.118(TCAP) N None 6.77265E-02 1.55599E-02 None 4.86355E-03 4.9271E-03 None 1.60565E-02 1.78277E-02 6.06439E-03 1.39886E-02 1.23184E-02
G/S 156 Ig-2 53 None 0.2611 None 0.956 D 0.625 0.546 0.438278051908 gnomAD-4.0.0 1.20032E-06 None None None -0.104(TCAP) N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
S/G 995 Ig-3 53 rs1369944497 0.071 0.177 None N 0.087 0.084 0.0666544352282 gnomAD-2.1.1 3.19E-05 None None None None I None 1.14811E-04 0 None 0 0 None 0 None 0 0 0
S/G 995 Ig-3 53 rs1369944497 0.071 0.177 None N 0.087 0.084 0.0666544352282 gnomAD-3.1.2 2.63E-05 None None None None I None 9.66E-05 0 0 0 0 None 0 0 0 0 0
S/G 995 Ig-3 53 rs1369944497 0.071 0.177 None N 0.087 0.084 0.0666544352282 gnomAD-4.0.0 2.62895E-05 None None None None I None 9.65624E-05 0 None 0 0 None 0 0 0 0 0
S/N 995 Ig-3 53 None 0.0697 None None N 0.136 0.142 0.101711395817 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
D/E 1344 Ig-5 54 rs1244864946 0.8556 None 1.0 N 0.503 0.236 0.170165803431 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
D/E 1344 Ig-5 54 rs1244864946 0.8556 None 1.0 N 0.503 0.236 0.170165803431 gnomAD-4.0.0 3.09801E-06 None None None None N None 0 0 None 0 0 None 0 0 4.2374E-06 0 0
D/G 1344 Ig-5 54 rs1203373476 0.6753 None 1.0 N 0.681 0.467 0.16115917748 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
D/G 1344 Ig-5 54 rs1203373476 0.6753 None 1.0 N 0.681 0.467 0.16115917748 gnomAD-4.0.0 3.09803E-06 None None None None N None 0 6.66711E-05 None 0 0 None 0 0 0 0 1.60041E-05
D/V 1344 Ig-5 54 None 0.9473 None 1.0 N 0.745 0.526 0.47409059586 gnomAD-4.0.0 6.84137E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99339E-07 0 0
D/G 1510 Ig-6 54 rs878911201 0.8475 -0.205 1.0 N 0.672 0.614 None gnomAD-2.1.1 7.09E-06 None None None None I None 8.01E-05 0 None 0 0 None 0 None 0 0 0
D/G 1510 Ig-6 54 rs878911201 0.8475 -0.205 1.0 N 0.672 0.614 None gnomAD-3.1.2 3.28E-05 None None None None I None 1.2061E-04 0 0 0 0 None 0 0 0 0 0
D/G 1510 Ig-6 54 rs878911201 0.8475 -0.205 1.0 N 0.672 0.614 None gnomAD-4.0.0 8.67481E-06 None None None None I None 1.86866E-04 0 None 0 0 None 0 0 0 0 0
D/H 1510 Ig-6 54 None 0.9877 None 1.0 D 0.632 0.551 0.596036732933 gnomAD-4.0.0 1.59102E-06 None None None None I None 0 0 None 4.76735E-05 0 None 0 0 0 0 0
D/H 2131 Ig-10 54 None 0.8094 None 1.0 D 0.671 0.747 0.515430650102 gnomAD-4.0.0 6.84111E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15931E-05 0
D/N 2131 Ig-10 54 None 0.2651 None 1.0 N 0.673 0.511 0.452928561435 gnomAD-4.0.0 6.84111E-07 None None None None N None 0 0 None 0 0 None 0 0 8.993E-07 0 0
R/K 2226 Ig-11 53 rs370438618 0.269 0.233 0.997 N 0.491 0.418 None gnomAD-2.1.1 1.19E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.64E-05 0
R/K 2226 Ig-11 53 rs370438618 0.269 0.233 0.997 N 0.491 0.418 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
R/K 2226 Ig-11 53 rs370438618 0.269 0.233 0.997 N 0.491 0.418 None gnomAD-4.0.0 7.43544E-06 None None None None N None 0 0 None 0 0 None 0 0 9.32238E-06 0 1.60041E-05
R/C 2318 Ig-12 52 rs1487336498 0.4839 -0.214 1.0 N 0.754 0.368 0.421184727016 gnomAD-2.1.1 7.97E-06 None None None None N None 0 0 None 0 5.44E-05 None 0 None 0 8.83E-06 0
R/C 2318 Ig-12 52 rs1487336498 0.4839 -0.214 1.0 N 0.754 0.368 0.421184727016 gnomAD-4.0.0 2.05225E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69797E-06 0 0
R/H 2318 Ig-12 52 rs761566436 0.2453 -0.973 1.0 N 0.767 0.459 None gnomAD-2.1.1 4.96E-05 None None None None N None 8.01E-05 0 None 0 0 None 2.61301E-04 None 0 3.11E-05 0
R/H 2318 Ig-12 52 rs761566436 0.2453 -0.973 1.0 N 0.767 0.459 None gnomAD-3.1.2 3.29E-05 None None None None N None 2.41E-05 0 0 0 1.92234E-04 None 0 0 4.41E-05 0 0
R/H 2318 Ig-12 52 rs761566436 0.2453 -0.973 1.0 N 0.767 0.459 None gnomAD-4.0.0 4.33728E-05 None None None None N None 2.67065E-05 0 None 0 2.45E-04 None 0 1.64366E-04 2.8814E-05 2.41551E-04 0
R/L 2318 Ig-12 52 None 0.5771 None 1.0 N 0.578 0.502 0.39798585902 gnomAD-4.0.0 1.36817E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.31863E-05 0
K/E 2407 Ig-13 52 None 0.5656 None 0.999 D 0.544 0.617 0.496827001477 gnomAD-4.0.0 1.59052E-06 None None None None N None 5.65291E-05 0 None 0 0 None 0 0 0 0 0
K/R 2407 Ig-13 52 rs748869225 0.1054 0.055 0.999 D 0.499 0.518 0.638385268675 gnomAD-2.1.1 1.2E-05 None None None None N None 0 8.68E-05 None 0 0 None 0 None 0 0 0
K/R 2407 Ig-13 52 rs748869225 0.1054 0.055 0.999 D 0.499 0.518 0.638385268675 gnomAD-4.0.0 2.73629E-06 None None None None N None 0 6.70901E-05 None 0 0 None 0 0 0 1.15931E-05 0
G/S 2497 Ig-14 53 rs2091839294 0.4357 None 0.991 D 0.571 0.465 0.167679373172 gnomAD-4.0.0 1.59068E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43275E-05 0
G/E 2584 Ig-15 52 None 0.5017 None 1.0 N 0.679 0.382 0.342631996419 gnomAD-4.0.0 1.59125E-06 None None None None N None 0 2.28896E-05 None 0 0 None 0 0 0 0 0
G/D 2671 Ig-16 51 None 0.2395 None 0.006 N 0.307 0.245 0.184867976434 gnomAD-4.0.0 6.8409E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99303E-07 0 0
G/V 2671 Ig-16 51 rs758484720 0.437 -0.544 0.761 D 0.591 0.513 0.715954125161 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
G/V 2671 Ig-16 51 rs758484720 0.437 -0.544 0.761 D 0.591 0.513 0.715954125161 gnomAD-4.0.0 6.8409E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15934E-05 0
G/E 2759 Ig-17 53 None 0.2415 None 1.0 D 0.677 0.587 0.851598590201 gnomAD-4.0.0 1.59051E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85647E-06 0 0
R/K 2846 Ig-18 52 rs1658158334 0.2542 None 0.543 N 0.285 0.263 0.112648838833 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
R/K 2846 Ig-18 52 rs1658158334 0.2542 None 0.543 N 0.285 0.263 0.112648838833 gnomAD-4.0.0 2.02991E-06 None None None None N None 1.74801E-05 0 None 0 0 None 0 0 1.2049E-06 0 0
G/E 2933 Ig-19 52 rs1406534791 0.9729 None 1.0 D 0.675 0.729 0.77929513315 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
K/N 3020 Ig-20 52 rs2090976989 0.275 None 0.801 N 0.331 0.16 0.110078149338 gnomAD-4.0.0 1.5906E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.0217E-05
K/R 3109 Ig-21 52 rs753036867 0.1054 -0.007 0.02 N 0.245 0.107 None gnomAD-2.1.1 1.77E-05 None None None None N None 2.0024E-04 0 None 0 0 None 0 None 0 0 0
K/R 3109 Ig-21 52 rs753036867 0.1054 -0.007 0.02 N 0.245 0.107 None gnomAD-3.1.2 6.57E-05 None None None None N None 2.41336E-04 0 0 0 0 None 0 0 0 0 0
K/R 3109 Ig-21 52 rs753036867 0.1054 -0.007 0.02 N 0.245 0.107 None gnomAD-4.0.0 1.11527E-05 None None None None N None 2.40276E-04 0 None 0 0 None 0 0 0 0 0
E/K 3396 Ig-24 52 None 0.2639 None 0.961 N 0.385 0.517 0.48087575253 gnomAD-4.0.0 6.84111E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99332E-07 0 0
E/Q 3396 Ig-24 52 None 0.2436 None 0.994 N 0.32 0.449 0.379193981924 gnomAD-4.0.0 6.84111E-07 None None None None N None 0 0 None 0 2.5208E-05 None 0 0 0 0 0
T/A 3519 Ig-25 55 rs1459818579 0.1923 -0.054 None None None 0.177 None gnomAD-2.1.1 3.18E-05 None None None None I None 0 0 None 0 0 None 0 None 0 6.48E-05 0
G/E 3712 Ig-26 53 None 0.1443 None None None None 0.228 None gnomAD-4.0.0 3.1824E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71621E-06 0 0
G/R 3712 Ig-26 53 None 0.152 None None None None 0.242 None gnomAD-4.0.0 6.842E-07 None None None None N None 0 0 None 0 2.52003E-05 None 0 0 0 0 0
G/D 3872 Ig-27 53 rs751755895 0.1635 None None N 0.341 0.092 None gnomAD-4.0.0 1.3684E-06 None None None None N None 2.98775E-05 0 None 0 0 None 1.87266E-05 0 0 0 0
G/S 3872 Ig-27 53 rs754936734 0.1047 -1.218 0.004 N 0.3 0.052 None gnomAD-2.1.1 1.07E-05 None None None None N None 4.13E-05 0 None 0 0 None 3.27E-05 None 0 7.82E-06 0
G/S 3872 Ig-27 53 rs754936734 0.1047 -1.218 0.004 N 0.3 0.052 None gnomAD-3.1.2 2.63E-05 None None None None N None 2.41E-05 0 0 0 1.92976E-04 None 0 0 2.94E-05 0 0
G/S 3872 Ig-27 53 rs754936734 0.1047 -1.218 0.004 N 0.3 0.052 None gnomAD-4.0.0 1.17745E-05 None None None None N None 1.33515E-05 0 None 0 2.22906E-05 None 0 0 9.32372E-06 5.4904E-05 1.60123E-05
G/V 3872 Ig-27 53 rs751755895 0.2462 -0.244 None N 0.466 0.099 None gnomAD-2.1.1 1.43E-05 None None None None N None 0 0 None 0 0 None 0 None 0 3.13E-05 0
G/V 3872 Ig-27 53 rs751755895 0.2462 -0.244 None N 0.466 0.099 None gnomAD-3.1.2 3.29E-05 None None None None N None 0 0 0 0 0 None 0 0 7.35E-05 0 0
G/V 3872 Ig-27 53 rs751755895 0.2462 -0.244 None N 0.466 0.099 None gnomAD-4.0.0 6.1969E-05 None None None None N None 0 0 None 0 0 None 0 0 8.476E-05 0 0
N/S 3991 Ig-28 54 rs1248393743 0.0737 None 0.005 N 0.213 0.166 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
N/S 3991 Ig-28 54 rs1248393743 0.0737 None 0.005 N 0.213 0.166 None gnomAD-4.0.0 3.09863E-06 None None None None N None 0 0 None 0 0 None 0 0 4.23794E-06 0 0
Q/E 4656 Ig-29 51 rs747289468 0.0648 -0.06 None N 0.083 0.076 None gnomAD-2.1.1 8.09E-06 None None None None N None 0 0 None 0 1.1241E-04 None 0 None 0 0 0
Q/E 4656 Ig-29 51 rs747289468 0.0648 -0.06 None N 0.083 0.076 None gnomAD-4.0.0 3.42936E-06 None None None None N None 0 0 None 0 1.01261E-04 None 0 0 9.01539E-07 0 0
K/E 4752 Ig-30 53 rs1383451111 0.1017 0.454 0.003 N 0.086 0.113 0.139678290688 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
K/E 4752 Ig-30 53 rs1383451111 0.1017 0.454 0.003 N 0.086 0.113 0.139678290688 gnomAD-4.0.0 7.95755E-06 None None None None N None 0 0 None 0 0 None 0 0 0 7.16435E-05 0
D/H 4940 Ig-32 53 rs763015586 0.4272 None 0.999 N 0.609 0.345 0.24896430686 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
D/H 4940 Ig-32 53 rs763015586 0.4272 None 0.999 N 0.609 0.345 0.24896430686 gnomAD-4.0.0 6.57039E-06 None None None None N None 0 6.5505E-05 None 0 0 None 0 0 0 0 0
D/N 4940 Ig-32 53 rs763015586 0.1086 -0.48 0.37 N 0.179 0.268 0.17258766438 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
D/N 4940 Ig-32 53 rs763015586 0.1086 -0.48 0.37 N 0.179 0.268 0.17258766438 gnomAD-4.0.0 1.36858E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99491E-07 1.15942E-05 0
N/H 5034 Ig-33 54 rs1211030254 0.143 None 0.001 N 0.234 0.126 0.104622674875 gnomAD-4.0.0 1.27304E-05 None None None None I None 0 0 None 0 2.21939E-04 None 0 0 0 0 0
N/S 5034 Ig-33 54 rs764009823 0.0996 0.112 0.005 N 0.193 0.077 0.115124310173 gnomAD-2.1.1 1.61E-05 None None None None I None 0 2.9E-05 None 0 0 None 0 None 0 1.78E-05 1.65893E-04
N/S 5034 Ig-33 54 rs764009823 0.0996 0.112 0.005 N 0.193 0.077 0.115124310173 gnomAD-3.1.2 6.57E-06 None None None None I None 0 6.55E-05 0 0 0 None 0 0 0 0 0
N/S 5034 Ig-33 54 rs764009823 0.0996 0.112 0.005 N 0.193 0.077 0.115124310173 gnomAD-4.0.0 6.8166E-06 None None None None I None 2.66951E-05 3.33411E-05 None 0 0 None 0 0 4.23804E-06 1.09803E-05 1.60102E-05
K/N 5127 Ig-34 53 rs1349879607 0.1824 0.326 0.801 N 0.242 0.21 0.176091768786 gnomAD-2.1.1 8.05E-06 None None None None N None 0 5.8E-05 None 0 0 None 0 None 0 0 0
K/N 5127 Ig-34 53 rs1349879607 0.1824 0.326 0.801 N 0.242 0.21 0.176091768786 gnomAD-4.0.0 1.3685E-06 None None None None N None 0 4.47367E-05 None 0 0 None 0 0 0 0 0
N/D 5220 Ig-35 53 rs1235055882 0.0777 0.412 0.062 N 0.356 0.136 0.143124449307 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
N/D 5220 Ig-35 53 rs1235055882 0.0777 0.412 0.062 N 0.356 0.136 0.143124449307 gnomAD-4.0.0 4.77345E-06 None None None None N None 0 0 None 0 0 None 0 0 8.57461E-06 0 0
N/S 5220 Ig-35 53 rs565670799 0.062 0.084 None N 0.193 0.11 0.0297737177859 gnomAD-2.1.1 3.21E-05 None None None None N None 0 0 None 0 0 None 2.61438E-04 None 0 7.8E-06 0
N/S 5220 Ig-35 53 rs565670799 0.062 0.084 None N 0.193 0.11 0.0297737177859 gnomAD-3.1.2 4.6E-05 None None None None N None 0 1.30993E-04 0 0 1.92604E-04 None 0 0 2.94E-05 4.14079E-04 0
N/S 5220 Ig-35 53 rs565670799 0.062 0.084 None N 0.193 0.11 0.0297737177859 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 1E-03 0 None None None 0 None
N/S 5220 Ig-35 53 rs565670799 0.062 0.084 None N 0.193 0.11 0.0297737177859 gnomAD-4.0.0 3.1601E-05 None None None None N None 0 3.33278E-05 None 0 2.22846E-05 None 0 0 9.32368E-06 3.95248E-04 1.60061E-05
N/S 5313 Ig-36 53 None 0.1747 None 0.826 N 0.381 0.204 0.176091768786 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 6.17284E-04 0 0 0
N/Y 5313 Ig-36 53 rs2080887582 0.3122 None 0.996 D 0.327 0.495 0.356072328145 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 9.43E-05 0 0 0 0
N/Y 5313 Ig-36 53 rs2080887582 0.3122 None 0.996 D 0.327 0.495 0.356072328145 gnomAD-4.0.0 2.56226E-06 None None None None N None 0 0 None 0 0 None 3.13844E-05 0 0 0 0
A/G 5502 Ig-38 53 None 0.0879 None 0.062 N 0.274 0.12 0.0920862733494 gnomAD-4.0.0 6.84268E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99497E-07 0 0
A/V 5502 Ig-38 53 rs1257068950 0.0897 -0.189 0.062 N 0.257 0.119 0.211220785272 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
A/V 5502 Ig-38 53 rs1257068950 0.0897 -0.189 0.062 N 0.257 0.119 0.211220785272 gnomAD-4.0.0 1.16326E-05 None None None None N None 0 0 None 0 0 None 0 3.46981E-04 1.2593E-05 1.15937E-05 0
E/A 5596 Ig-39 54 None 0.104 None 0.042 N 0.257 0.078 0.183819452728 gnomAD-4.0.0 4.78939E-06 None None None None N None 0 0 None 0 0 None 0 0 6.29627E-06 0 0
N/K 5782 Ig-41 53 rs535281449 0.2735 0.343 0.98 N 0.385 0.19 0.177238962908 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.88E-06 0
N/S 5782 Ig-41 53 rs1423767140 0.1366 0.246 0.659 N 0.222 0.165 0.128392430309 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.88E-06 0
N/S 5782 Ig-41 53 rs1423767140 0.1366 0.246 0.659 N 0.222 0.165 0.128392430309 gnomAD-4.0.0 1.59123E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85812E-06 0 0
D/G 5875 Ig-42 53 None 0.1651 None 0.822 N 0.459 0.178 0.128392430309 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
D/Y 5875 Ig-42 53 rs776136342 0.4747 0.183 0.997 N 0.573 0.404 0.546306241058 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
D/Y 5875 Ig-42 53 rs776136342 0.4747 0.183 0.997 N 0.573 0.404 0.546306241058 gnomAD-4.0.0 1.59147E-06 None None None None N None 5.66187E-05 0 None 0 0 None 0 0 0 0 0
D/G 5971 Ig-43 53 rs750122705 0.2464 -0.306 0.989 N 0.387 0.333 0.223847106136 gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 0 None 9.81E-05 None 0 0 0
D/G 5971 Ig-43 53 rs750122705 0.2464 -0.306 0.989 N 0.387 0.333 0.223847106136 gnomAD-4.0.0 9.54927E-06 None None None None N None 0 0 None 0 0 None 0 0 0 8.59623E-05 0
D/N 5971 Ig-43 53 rs762806572 0.1718 0.005 0.989 N 0.325 0.291 0.261217442401 gnomAD-2.1.1 2.01E-05 None None None None N None 0 0 None 0 0 None 0 None 0 4.45E-05 0
D/N 5971 Ig-43 53 rs762806572 0.1718 0.005 0.989 N 0.325 0.291 0.261217442401 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
D/N 5971 Ig-43 53 rs762806572 0.1718 0.005 0.989 N 0.325 0.291 0.261217442401 gnomAD-4.0.0 1.15325E-05 None None None None N None 0 0 None 0 0 None 0 0 2.15419E-05 0 0
D/V 5971 Ig-43 53 rs750122705 0.6189 0.072 0.997 N 0.501 0.54 0.464698922459 gnomAD-2.1.1 8.05E-06 None None None None N None 0 5.8E-05 None 0 0 None 0 None 0 0 0
D/V 5971 Ig-43 53 rs750122705 0.6189 0.072 0.997 N 0.501 0.54 0.464698922459 gnomAD-3.1.2 6.57E-06 None None None None N None 0 6.56E-05 0 0 0 None 0 0 0 0 0
D/V 5971 Ig-43 53 rs750122705 0.6189 0.072 0.997 N 0.501 0.54 0.464698922459 gnomAD-4.0.0 3.84386E-06 None None None None N None 0 5.08613E-05 None 0 0 None 0 0 0 0 0
D/H 6064 Ig-44 53 rs750822862 0.2402 -0.317 0.901 N 0.55 0.189 0.156986980423 gnomAD-2.1.1 7.15E-06 None None None None N None 4.14E-05 0 None 0 0 None 3.27E-05 None 0 0 0
D/H 6064 Ig-44 53 rs750822862 0.2402 -0.317 0.901 N 0.55 0.189 0.156986980423 gnomAD-3.1.2 1.31E-05 None None None None N None 4.83E-05 0 0 0 0 None 0 0 0 0 0
D/H 6064 Ig-44 53 rs750822862 0.2402 -0.317 0.901 N 0.55 0.189 0.156986980423 gnomAD-4.0.0 3.8449E-06 None None None None N None 3.38375E-05 0 None 0 0 None 0 0 0 1.3403E-05 0
D/G 6158 Ig-45 54 None 0.1042 None 0.892 N 0.473 0.332 0.377799810692 gnomAD-4.0.0 3.18276E-06 None None None None N None 0 0 None 0 2.77393E-05 None 0 0 2.85847E-06 0 0
D/N 6158 Ig-45 54 rs2080068286 0.0815 None 0.099 N 0.251 0.239 0.288352970974 gnomAD-4.0.0 5.47383E-06 None None None None N None 0 0 None 0 1.76402E-04 None 0 0 8.99488E-07 0 0
D/E 6344 Ig-47 53 rs750787195 0.1856 -0.151 0.012 N 0.19 0.057 0.0762999501168 gnomAD-4.0.0 8.21481E-06 None None None None I None 0 0 None 0 0 None 0 0 1.07964E-05 0 0
N/Y 6437 Ig-48 53 None 0.3442 None 0.999 N 0.567 0.352 0.416328079214 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 6533 Ig-49 53 None 0.1151 None 0.061 N 0.147 0.198 0.0482279557977 gnomAD-4.0.0 1.59273E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86089E-06 0 0
E/K 6533 Ig-49 53 rs886042142 0.1949 None 0.98 N 0.377 0.245 0.241078983079 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/K 6533 Ig-49 53 rs886042142 0.1949 None 0.98 N 0.377 0.245 0.241078983079 gnomAD-4.0.0 1.85978E-06 None None None None N None 0 0 None 0 0 None 0 0 2.54358E-06 0 0
E/Q 6533 Ig-49 53 None 0.1966 None 0.99 N 0.35 0.246 0.15556083564 gnomAD-4.0.0 2.05346E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69921E-06 0 0
G/E 6626 Ig-50 53 rs1362220931 0.2259 -0.243 0.999 N 0.688 0.315 0.32714864917 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.88E-06 0
G/R 6626 Ig-50 53 rs770749098 0.4217 -0.671 0.999 N 0.725 0.478 0.562879358496 gnomAD-2.1.1 4.02E-06 None None None None N None 0 2.9E-05 None 0 0 None 0 None 0 0 0
G/R 6626 Ig-50 53 rs770749098 0.4217 -0.671 0.999 N 0.725 0.478 0.562879358496 gnomAD-4.0.0 1.59237E-06 None None None None N None 0 2.28655E-05 None 0 0 None 0 0 0 0 0
G/V 6626 Ig-50 53 rs1362220931 0.3192 None 0.884 N 0.528 0.301 0.531484362937 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
D/V 6720 Ig-51 54 rs1181953856 0.7329 0.333 0.991 N 0.572 0.449 0.440077040801 gnomAD-2.1.1 4.03E-06 None None None None I None 0 2.9E-05 None 0 0 None 0 None 0 0 0
D/V 6720 Ig-51 54 rs1181953856 0.7329 0.333 0.991 N 0.572 0.449 0.440077040801 gnomAD-4.0.0 1.59247E-06 None None None None I None 0 2.28854E-05 None 0 0 None 0 0 0 0 0
N/H 6813 Ig-52 53 None 0.1757 None 0.006 N 0.137 0.114 0.168933306366 gnomAD-4.0.0 1.59261E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86049E-06 0 0
E/Q 6907 Ig-53 54 None 0.1295 None 0.001 N 0.151 0.084 0.104622674875 gnomAD-4.0.0 1.59251E-06 None None None None I None 0 0 None 0 0 None 0 0 0 0 3.02572E-05
N/D 7000 Ig-54 53 rs1173819966 0.1327 None 0.015 N 0.098 0.104 0.0716867268079 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
N/D 7000 Ig-54 53 rs1173819966 0.1327 None 0.015 N 0.098 0.104 0.0716867268079 gnomAD-4.0.0 2.56303E-06 None None None None N None 0 0 None 0 0 None 0 0 4.78801E-06 0 0
N/I 7000 Ig-54 53 rs764035021 0.782 0.299 0.996 N 0.45 0.421 0.463243292966 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.88E-06 0
N/I 7000 Ig-54 53 rs764035021 0.782 0.299 0.996 N 0.45 0.421 0.463243292966 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
N/I 7000 Ig-54 53 rs764035021 0.782 0.299 0.996 N 0.45 0.421 0.463243292966 gnomAD-4.0.0 1.85939E-06 None None None None N None 0 0 None 0 0 None 0 0 2.54322E-06 0 0
N/S 7000 Ig-54 53 rs764035021 0.1154 -0.305 0.826 N 0.355 0.209 0.0806252709748 gnomAD-2.1.1 9.25E-05 None None None None N None 0 2.9E-05 None 0 0 None 7.19095E-04 None 0 0 0
N/S 7000 Ig-54 53 rs764035021 0.1154 -0.305 0.826 N 0.355 0.209 0.0806252709748 gnomAD-3.1.2 6.57E-05 None None None None N None 0 0 0 0 0 None 0 0 0 2.07125E-03 0
N/S 7000 Ig-54 53 rs764035021 0.1154 -0.305 0.826 N 0.355 0.209 0.0806252709748 gnomAD-4.0.0 6.136E-05 None None None None N None 0 1.66783E-05 None 0 0 None 0 0 4.2387E-06 9.55267E-04 9.61015E-05
D/E 7096 Ig-55 53 rs1482277729 0.1831 -0.1 0.006 N 0.119 0.049 0.0762999501168 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
D/E 7096 Ig-55 53 rs1482277729 0.1831 -0.1 0.006 N 0.119 0.049 0.0762999501168 gnomAD-4.0.0 6.84317E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15947E-05 0
E/D 7282 Ig-57 53 None 0.1101 None 0.026 N 0.231 0.105 0.0716867268079 gnomAD-4.0.0 1.20032E-06 None None None None I None 6.33473E-05 0 None 0 0 None 0 0 0 0 0
E/G 7282 Ig-57 53 rs757098573 0.1229 0.038 0.026 N 0.306 0.196 0.180583059064 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
E/K 7282 Ig-57 53 rs778532757 0.1502 0.694 0.896 N 0.419 0.239 0.226586394389 gnomAD-2.1.1 1.07E-05 None None None None I None 0 0 None 0 0 None 0 None 4E-05 1.57E-05 0
E/K 7282 Ig-57 53 rs778532757 0.1502 0.694 0.896 N 0.419 0.239 0.226586394389 gnomAD-3.1.2 3.29E-05 None None None None I None 0 0 0 0 0 None 0 0 7.35E-05 0 0
E/K 7282 Ig-57 53 rs778532757 0.1502 0.694 0.896 N 0.419 0.239 0.226586394389 gnomAD-4.0.0 2.97507E-05 None None None None I None 0 0 None 0 0 None 3.12539E-05 0 3.89947E-05 0 0
N/K 7375 Ig-58 53 rs750961839 0.2858 0.532 0.028 N 0.12 0.123 0.0716867268079 gnomAD-2.1.1 4.03E-06 None None None None I None 6.46E-05 0 None 0 0 None 0 None 0 0 0
N/K 7375 Ig-58 53 rs750961839 0.2858 0.532 0.028 N 0.12 0.123 0.0716867268079 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
N/K 7375 Ig-58 53 rs750961839 0.2858 0.532 0.028 N 0.12 0.123 0.0716867268079 gnomAD-4.0.0 6.57774E-06 None None None None I None 2.41488E-05 0 None 0 0 None 0 0 0 0 0
D/G 7471 Ig-59 53 rs760724710 0.1644 0.026 0.955 N 0.516 0.416 0.324436698001 gnomAD-2.1.1 1.61E-05 None None None None I None 0 0 None 0 0 None 0 None 0 3.58E-05 0
D/G 7471 Ig-59 53 rs760724710 0.1644 0.026 0.955 N 0.516 0.416 0.324436698001 gnomAD-4.0.0 1.59212E-05 None None None None I None 0 2.2877E-05 None 0 0 None 0 0 2.57381E-05 0 0
D/N 7471 Ig-59 53 rs1174976870 0.1063 0.056 0.117 N 0.251 0.197 0.230578612272 gnomAD-2.1.1 4.04E-06 None None None None I None 0 0 None 0 5.59E-05 None 0 None 0 0 0
D/N 7471 Ig-59 53 rs1174976870 0.1063 0.056 0.117 N 0.251 0.197 0.230578612272 gnomAD-4.0.0 1.59219E-06 None None None None I None 0 0 None 0 2.77546E-05 None 0 0 0 0 0
G/A 7567 Ig-60 53 rs764311341 0.131 0.066 0.002 N 0.085 0.222 0.0986583533028 gnomAD-4.0.0 6.84327E-07 None None None None I None 0 0 None 3.82907E-05 0 None 0 0 0 0 0
G/E 7567 Ig-60 53 rs764311341 0.1615 None 0.023 N 0.189 0.258 0.251116650651 gnomAD-4.0.0 1.36865E-06 None None None None I None 0 0 None 0 0 None 0 0 1.79924E-06 0 0
H/N 7754 Ig-62 53 None 0.0318 None None N 0.071 0.074 0.0551355673512 gnomAD-4.0.0 2.05285E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69866E-06 0 0
H/Q 7754 Ig-62 53 rs1043714210 0.1241 -0.36 0.003 N 0.156 0.06 0.0920862733494 gnomAD-2.1.1 3.18E-05 None None None None N None 1.14758E-04 0 None 0 0 None 0 None 0 0 0
H/Q 7754 Ig-62 53 rs1043714210 0.1241 -0.36 0.003 N 0.156 0.06 0.0920862733494 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
H/Q 7754 Ig-62 53 rs1043714210 0.1241 -0.36 0.003 N 0.156 0.06 0.0920862733494 gnomAD-4.0.0 3.04482E-06 None None None None N None 5.24036E-05 0 None 0 0 None 0 0 0 0 0
H/Y 7754 Ig-62 53 None 0.083 None 0.013 N 0.211 0.065 0.0806252709748 gnomAD-4.0.0 6.84285E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.1595E-05 0
D/G 7848 Ig-63 54 None 0.117 None 0.201 N 0.311 0.197 0.159798565429 gnomAD-4.0.0 1.20032E-06 None None None None I None 6.33473E-05 0 None 0 0 None 0 0 0 0 0
N/D 7941 Ig-64 53 rs2078042798 0.0979 None None N 0.099 0.141 0.0884992946249 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
N/D 7941 Ig-64 53 rs2078042798 0.0979 None None N 0.099 0.141 0.0884992946249 gnomAD-4.0.0 3.045E-06 None None None None N None 0 0 None 0 0 None 0 0 0 9.39761E-05 3.40275E-05
N/K 7941 Ig-64 53 rs370320967 0.1809 0.536 None N 0.133 0.093 0.0551355673512 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.88E-06 0
N/K 7941 Ig-64 53 rs370320967 0.1809 0.536 None N 0.133 0.093 0.0551355673512 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
N/K 7941 Ig-64 53 rs370320967 0.1809 0.536 None N 0.133 0.093 0.0551355673512 gnomAD-4.0.0 3.04516E-06 None None None None N None 0 0 None 0 0 None 0 0 3.61481E-06 0 0
N/S 7941 Ig-64 53 None 0.0919 None 0.027 N 0.247 0.106 0.0762999501168 gnomAD-4.0.0 3.42111E-06 None None None None N None 0 0 None 0 0 None 0 0 3.598E-06 1.15934E-05 0
H/R 8412 Ig-69 53 rs775392484 0.0815 -0.465 None N 0.089 0.09 None gnomAD-2.1.1 2.15E-05 None None None None N None 2.4853E-04 0 None 0 0 None 0 None 0 0 0
H/R 8412 Ig-69 53 rs775392484 0.0815 -0.465 None N 0.089 0.09 None gnomAD-3.1.2 5.26E-05 None None None None N None 1.93032E-04 0 0 0 0 None 0 0 0 0 0
H/R 8412 Ig-69 53 rs775392484 0.0815 -0.465 None N 0.089 0.09 None gnomAD-4.0.0 7.43843E-06 None None None None N None 1.46855E-04 0 None 0 0 None 0 0 8.47764E-07 0 0
H/Y 8412 Ig-69 53 rs1256940513 0.1135 0.911 0.006 N 0.287 0.066 0.115124310173 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 4.66E-05 0 0
H/Y 8412 Ig-69 53 rs1256940513 0.1135 0.911 0.006 N 0.287 0.066 0.115124310173 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
H/Y 8412 Ig-69 53 rs1256940513 0.1135 0.911 0.006 N 0.287 0.066 0.115124310173 gnomAD-4.0.0 2.56397E-06 None None None None N None 1.69222E-05 0 None 0 0 None 1.5705E-05 0 0 0 0
E/D 8508 Ig-70 53 None 0.0976 None None N 0.186 0.048 0.0762999501168 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
E/G 8508 Ig-70 53 rs2154298886 0.0959 None 0.8 N 0.447 0.214 0.238096912614 gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 1.92678E-04 None 0 0 0 0 0
E/G 8508 Ig-70 53 rs2154298886 0.0959 None 0.8 N 0.447 0.214 0.238096912614 gnomAD-4.0.0 2.5623E-06 None None None None I None 0 0 None 0 2.42483E-05 None 0 0 2.39373E-06 0 0
D/E 8602 Ig-71 54 None 0.2649 None 0.006 N 0.255 0.06 0.0611884634855 gnomAD-4.0.0 6.84271E-07 None None None None I None 0 0 None 0 0 None 0 0 0 0 1.65673E-05
N/D 8695 Ig-72 53 rs767736451 0.1312 0.227 0.126 N 0.223 0.116 0.115124310173 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
N/D 8695 Ig-72 53 rs767736451 0.1312 0.227 0.126 N 0.223 0.116 0.115124310173 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 0 2.07039E-04 0
N/D 8695 Ig-72 53 rs767736451 0.1312 0.227 0.126 N 0.223 0.116 0.115124310173 gnomAD-4.0.0 9.91551E-06 None None None None N None 0 0 None 0 0 None 0 0 3.39061E-06 1.31752E-04 0
N/K 8695 Ig-72 53 None 0.3399 None 0.897 N 0.163 0.15 0.124217242631 gnomAD-4.0.0 1.59141E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85883E-06 0 0
N/S 8882 Ig-74 53 rs1035818414 0.0876 None 0.826 N 0.279 0.192 0.132336055621 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 1.09649E-03 0 0 None 0 0 0 0 0
N/S 8882 Ig-74 53 rs1035818414 0.0876 None 0.826 N 0.279 0.192 0.132336055621 gnomAD-4.0.0 6.57177E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 0
D/H 8978 Ig-75 53 rs773744166 0.553 0.386 0.998 N 0.438 0.346 0.194818534648 gnomAD-2.1.1 1.61E-05 None None None None N None 0 1.16218E-04 None 0 0 None 0 None 0 0 0
D/H 8978 Ig-75 53 rs773744166 0.553 0.386 0.998 N 0.438 0.346 0.194818534648 gnomAD-4.0.0 3.1832E-06 None None None None N None 0 4.5754E-05 None 0 0 None 0 0 0 0 0
D/N 9071 Ig-76 53 None 0.08 None 0.002 N 0.123 0.146 0.134241683229 gnomAD-4.0.0 1.59136E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85829E-06 0 0
D/V 9071 Ig-76 53 rs886044486 0.1904 0.227 0.117 N 0.34 0.189 0.36453787251 gnomAD-2.1.1 1.21E-05 None None None None N None 0 8.7E-05 None 0 0 None 0 None 0 0 0
D/V 9071 Ig-76 53 rs886044486 0.1904 0.227 0.117 N 0.34 0.189 0.36453787251 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
D/V 9071 Ig-76 53 rs886044486 0.1904 0.227 0.117 N 0.34 0.189 0.36453787251 gnomAD-4.0.0 5.12447E-06 None None None None N None 0 6.78127E-05 None 0 0 None 0 0 0 0 0
N/S 9257 Ig-78 53 rs1448296665 0.1505 None 0.704 N 0.286 0.169 0.0954503805726 gnomAD-4.0.0 2.73685E-06 None None None None I None 0 0 None 0 0 None 0 0 3.59792E-06 0 0
N/K 9546 Ig-81 54 None 0.4456 None 0.801 None 0.298 0.121 0.107399877778 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
N/S 9546 Ig-81 54 None 0.1343 None 0.062 None 0.112 0.092 0.0846915920261 gnomAD-4.0.0 1.59105E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85791E-06 0 0
N/Y 9546 Ig-81 54 None 0.2919 None 0.989 None 0.311 0.296 0.407767136052 gnomAD-4.0.0 4.80129E-06 None None None None N None 0 0 None 0 0 None 0 0 3.9375E-06 0 3.66327E-05
S/G 9642 Ig-82 53 rs367888853 0.0667 0.062 0.005 None 0.125 0.069 None gnomAD-2.1.1 3.62E-05 None None None None N None 0 0 None 0 0 None 0 None 0 7.09E-05 1.65399E-04
S/G 9642 Ig-82 53 rs367888853 0.0667 0.062 0.005 None 0.125 0.069 None gnomAD-3.1.2 2.63E-05 None None None None N None 7.24E-05 0 0 0 0 None 9.43E-05 0 0 0 0
S/G 9642 Ig-82 53 rs367888853 0.0667 0.062 0.005 None 0.125 0.069 None gnomAD-4.0.0 3.53208E-05 None None None None N None 4.00395E-05 0 None 0 0 None 4.68809E-05 0 4.32255E-05 0 0
S/N 9642 Ig-82 53 rs1461432268 0.0683 0.017 None None 0.077 0.167 0.0297737177859 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 5.57E-05 None 0 None 0 0 0
S/R 9642 Ig-82 53 None 0.226 None None None 0.153 0.108 0.0401082797425 gnomAD-4.0.0 2.05255E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69827E-06 0 0
S/T 9642 Ig-82 53 None 0.093 None 0.012 None 0.166 0.133 0.0401082797425 gnomAD-4.0.0 3.18224E-06 None None None None N None 5.65227E-05 0 None 0 0 None 0 0 2.85778E-06 0 0
G/V 9751 Ig-83 54 rs779884658 0.8311 -0.149 0.994 None 0.796 0.339 0.386395597597 gnomAD-2.1.1 1.2E-05 None None None None I None 0 0 None 0 0 None 9.8E-05 None 0 0 0
G/V 9751 Ig-83 54 rs779884658 0.8311 -0.149 0.994 None 0.796 0.339 0.386395597597 gnomAD-4.0.0 8.89413E-06 None None None None I None 0 2.23604E-05 None 0 0 None 0 0 2.69828E-06 1.04343E-04 0
G/C 9953 Ig-84 54 rs770212603 0.7305 -0.561 1.0 None 0.685 0.59 0.606672344029 gnomAD-2.1.1 1.08E-05 None None None None I None 0 8.56E-05 None 0 0 None 0 None 0 0 0
G/C 9953 Ig-84 54 rs770212603 0.7305 -0.561 1.0 None 0.685 0.59 0.606672344029 gnomAD-3.1.2 1.31E-05 None None None None I None 0 1.30924E-04 0 0 0 None 0 0 0 0 0
G/C 9953 Ig-84 54 rs770212603 0.7305 -0.561 1.0 None 0.685 0.59 0.606672344029 gnomAD-4.0.0 3.7207E-06 None None None None I None 0 1.00287E-04 None 0 0 None 0 0 0 0 0
G/D 9953 Ig-84 54 rs1201726118 0.461 -0.695 1.0 None 0.655 0.387 0.254761474806 gnomAD-2.1.1 3.18E-05 None None None None I None 0 0 None 0 0 None 0 None 0 6.48E-05 0
G/D 9953 Ig-84 54 rs1201726118 0.461 -0.695 1.0 None 0.655 0.387 0.254761474806 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
G/D 9953 Ig-84 54 rs1201726118 0.461 -0.695 1.0 None 0.655 0.387 0.254761474806 gnomAD-4.0.0 9.13453E-06 None None None None I None 0 0 None 0 0 None 0 0 1.08442E-05 0 0
G/S 9953 Ig-84 54 rs770212603 0.2701 -0.213 1.0 None 0.655 0.402 0.262662153117 gnomAD-2.1.1 4.06E-06 None None None None I None 0 0 None 0 5.63E-05 None 0 None 0 0 0
G/S 9953 Ig-84 54 rs770212603 0.2701 -0.213 1.0 None 0.655 0.402 0.262662153117 gnomAD-4.0.0 6.84735E-07 None None None None I None 0 2.24457E-05 None 0 0 None 0 0 0 0 0
H/Y 10040 Ig-85 52 None 0.1586 None 0.051 None 0.153 0.177 0.166414681773 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
G/S 13738 Ig-87 55 None 0.6765 None 0.991 N 0.553 0.395 0.259761712551 gnomAD-4.0.0 1.59196E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85963E-06 0 0
G/S 13832 Ig-88 53 rs2060400293 0.3867 None 1.0 D 0.711 0.587 0.750718085193 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
G/S 13832 Ig-88 53 rs2060400293 0.3867 None 1.0 D 0.711 0.587 0.750718085193 gnomAD-4.0.0 6.57748E-06 None None None None N None 2.41406E-05 0 None 0 0 None 0 0 0 0 0
G/R 13927 Ig-89 52 rs758326922 0.504 -0.987 1.0 D 0.849 0.443 0.704213449561 gnomAD-2.1.1 9.07E-06 None None None None N None 0 0 None 0 0 None 7.17E-05 None 0 0 0
G/R 13927 Ig-89 52 rs758326922 0.504 -0.987 1.0 D 0.849 0.443 0.704213449561 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 0 None 0 0 0 4.14594E-04 0
G/R 13927 Ig-89 52 rs758326922 0.504 -0.987 1.0 D 0.849 0.443 0.704213449561 gnomAD-4.0.0 1.37868E-05 None None None None N None 0 0 None 0 0 None 0 0 0 2.47497E-04 0
G/V 13927 Ig-89 52 None 0.6878 None 1.0 D 0.815 0.474 None gnomAD-4.0.0 1.63738E-06 None None None None N None 0 0 None 0 0 None 0 0 2.94095E-06 0 0
G/C 14016 Ig-90 52 None 0.3911 None 0.981 D 0.697 0.393 0.464014491786 gnomAD-4.0.0 6.85578E-07 None None None None N None 0 0 None 0 2.52666E-05 None 0 0 0 0 0
G/R 14016 Ig-90 52 rs367751077 0.4553 -0.347 0.531 D 0.69 0.375 None gnomAD-2.1.1 1.22E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.68E-05 0
G/R 14016 Ig-90 52 rs367751077 0.4553 -0.347 0.531 D 0.69 0.375 None gnomAD-3.1.2 3.29E-05 None None None None N None 0 0 0 0 0 None 0 0 7.35E-05 0 0
G/R 14016 Ig-90 52 rs367751077 0.4553 -0.347 0.531 D 0.69 0.375 None gnomAD-4.0.0 1.9246E-05 None None None None N None 0 0 None 0 0 None 0 0 2.62955E-05 0 0
G/S 14016 Ig-90 52 rs367751077 0.1393 -0.521 0.244 D 0.653 0.408 0.218112801441 gnomAD-2.1.1 1.63E-05 None None None None N None 0 0 None 0 0 None 0 None 0 3.58E-05 0
G/S 14016 Ig-90 52 rs367751077 0.1393 -0.521 0.244 D 0.653 0.408 0.218112801441 gnomAD-3.1.2 1.97E-05 None None None None N None 2.41E-05 0 0 0 0 None 0 0 2.94E-05 0 0
G/S 14016 Ig-90 52 rs367751077 0.1393 -0.521 0.244 D 0.653 0.408 0.218112801441 gnomAD-4.0.0 1.05543E-05 None None None None N None 2.67781E-05 0 None 0 0 None 0 0 1.27236E-05 0 0
G/D 14193 Ig-92 52 None 0.2689 None 1.0 N 0.672 0.517 0.280181792013 gnomAD-4.0.0 1.59201E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85979E-06 0 0
G/S 14193 Ig-92 52 rs766100670 0.2816 -0.703 1.0 D 0.703 0.481 0.26169431596 gnomAD-2.1.1 2.01E-05 None None None None N None 0 1.44852E-04 None 0 0 None 0 None 0 0 0
G/S 14193 Ig-92 52 rs766100670 0.2816 -0.703 1.0 D 0.703 0.481 0.26169431596 gnomAD-3.1.2 3.95E-05 None None None None N None 0 3.93649E-04 0 0 0 None 0 0 0 0 0
G/S 14193 Ig-92 52 rs766100670 0.2816 -0.703 1.0 D 0.703 0.481 0.26169431596 gnomAD-4.0.0 1.53826E-05 None None None None N None 0 2.03493E-04 None 0 0 None 0 0 0 0 0
G/E 14370 Ig-94 52 rs1463898788 0.6301 -2.667 0.995 D 0.767 0.51 0.388174495139 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.93E-06 0
G/E 14370 Ig-94 52 rs1463898788 0.6301 -2.667 0.995 D 0.767 0.51 0.388174495139 gnomAD-4.0.0 4.79192E-06 None None None None N None 0 0 None 0 0 None 0 0 5.39873E-06 1.16001E-05 0
G/R 14370 Ig-94 52 None 0.5437 None 0.999 D 0.751 0.431 0.480801007081 gnomAD-4.0.0 1.3691E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79955E-06 0 0
G/S 14637 Ig-97 52 None 0.2311 None 1.0 D 0.679 0.538 0.231873229951 gnomAD-4.0.0 1.59232E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85961E-06 0 0
G/V 14637 Ig-97 52 None 0.708 None 1.0 D 0.702 0.551 0.731714717012 gnomAD-4.0.0 1.59231E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85958E-06 0 0
G/S 14726 Ig-98 52 rs767831350 0.2554 -1.399 1.0 D 0.758 0.462 0.243972157842 gnomAD-2.1.1 1.23E-05 None None None None N None 6.49E-05 0 None 0 0 None 0 None 0 1.8E-05 0
G/S 14726 Ig-98 52 rs767831350 0.2554 -1.399 1.0 D 0.758 0.462 0.243972157842 gnomAD-3.1.2 1.32E-05 None None None None N None 4.83E-05 0 0 0 0 None 0 0 0 0 0
G/S 14726 Ig-98 52 rs767831350 0.2554 -1.399 1.0 D 0.758 0.462 0.243972157842 gnomAD-4.0.0 6.43738E-06 None None None None N None 3.39582E-05 0 None 0 0 None 0 0 7.19666E-06 0 0
G/E 14815 Ig-99 51 rs1157011423 0.4322 -1.925 1.0 D 0.7 0.394 0.421427970867 gnomAD-2.1.1 3.19E-05 None None None None N None 0 0 None 0 0 None 0 None 0 6.49E-05 0
G/E 14815 Ig-99 51 rs1157011423 0.4322 -1.925 1.0 D 0.7 0.394 0.421427970867 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 0 None 0 0 2.95E-05 0 0
G/E 14815 Ig-99 51 rs1157011423 0.4322 -1.925 1.0 D 0.7 0.394 0.421427970867 gnomAD-4.0.0 8.85963E-06 None None None None N None 0 0 None 0 0 None 0 0 1.11372E-05 0 1.63527E-05
G/R 14815 Ig-99 51 rs371177020 0.5059 -0.833 1.0 D 0.764 0.434 0.591730238936 gnomAD-3.1.2 6.59E-06 None None None None N None 2.42E-05 0 0 0 0 None 0 0 0 0 0
G/R 14815 Ig-99 51 rs371177020 0.5059 -0.833 1.0 D 0.764 0.434 0.591730238936 gnomAD-4.0.0 6.58874E-06 None None None None N None 2.41686E-05 0 None 0 0 None 0 0 0 0 0
G/E 14993 Ig-101 52 rs200931793 0.4219 -1.329 1.0 D 0.667 0.498 None gnomAD-2.1.1 4.45E-05 None None None None N None 6.49E-05 0 None 0 0 None 0 None 0 8.93E-05 0
G/E 14993 Ig-101 52 rs200931793 0.4219 -1.329 1.0 D 0.667 0.498 None gnomAD-3.1.2 5.92E-05 None None None None N None 4.83E-05 0 0 0 0 None 0 0 1.03041E-04 0 0
G/E 14993 Ig-101 52 rs200931793 0.4219 -1.329 1.0 D 0.667 0.498 None gnomAD-4.0.0 9.307E-05 None None None None N None 2.67423E-05 0 None 0 0 None 0 0 1.20455E-04 1.09907E-05 8.02028E-05
G/V 14993 Ig-101 52 rs200931793 0.6938 None 1.0 D 0.686 0.617 0.557207555769 gnomAD-4.0.0 2.0551E-06 None None None None N None 0 0 None 0 0 None 0 0 2.70044E-06 0 0
G/E 15082 Ig-102 52 rs1400844297 0.2684 None 1.0 D 0.696 0.475 0.681741161928 gnomAD-3.1.2 6.59E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
G/V 15171 Ig-103 52 None 0.7894 None 1.0 D 0.689 0.628 0.748507113192 gnomAD-4.0.0 1.5939E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86185E-06 0 0
D/V 15259 Ig-104 52 None 0.7079 None 0.997 D 0.662 0.496 0.445210270852 gnomAD-4.0.0 4.10766E-06 None None None None N None 0 0 None 0 0 None 0 0 5.39933E-06 0 0
K/E 15353 Ig-105 52 rs747996981 0.3013 0.149 0.998 N 0.479 0.351 0.229264304666 gnomAD-2.1.1 8.08E-06 None None None None N None 0 5.81E-05 None 0 0 None 0 None 0 0 0
K/E 15353 Ig-105 52 rs747996981 0.3013 0.149 0.998 N 0.479 0.351 0.229264304666 gnomAD-4.0.0 3.18855E-06 None None None None N None 0 4.58127E-05 None 0 0 None 0 0 0 0 0
K/M 15353 Ig-105 52 None 0.4118 None 1.0 N 0.538 0.407 0.277317399466 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
G/A 15442 Ig-106 52 rs749908018 0.3172 -0.538 1.0 D 0.563 0.691 0.580021155531 gnomAD-2.1.1 8.18E-06 None None None None N None 0 0 None 0 0 None 6.82E-05 None 0 0 0
G/A 15442 Ig-106 52 rs749908018 0.3172 -0.538 1.0 D 0.563 0.691 0.580021155531 gnomAD-3.1.2 6.59E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
G/A 15442 Ig-106 52 rs749908018 0.3172 -0.538 1.0 D 0.563 0.691 0.580021155531 gnomAD-4.0.0 3.10578E-06 None None None None N None 0 0 None 0 0 None 0 0 8.48637E-07 3.33059E-05 1.60498E-05
G/R 15531 Ig-107 52 rs761815745 0.843 -0.577 1.0 D 0.659 0.661 0.861762967768 gnomAD-2.1.1 3.63E-05 None None None None N None 0 8.7E-05 None 0 0 None 0 None 0 5.35E-05 0
G/R 15531 Ig-107 52 rs761815745 0.843 -0.577 1.0 D 0.659 0.661 0.861762967768 gnomAD-3.1.2 6.59E-06 None None None None N None 2.42E-05 0 0 0 0 None 0 0 0 0 0
G/R 15531 Ig-107 52 rs761815745 0.843 -0.577 1.0 D 0.659 0.661 0.861762967768 gnomAD-4.0.0 6.58918E-06 None None None None N None 2.41698E-05 0 None 0 0 None 0 0 0 0 0
A/T 15617 Ig-108 50 rs1467341061 0.0681 -0.653 0.051 N 0.307 0.042 0.180583059064 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.93E-06 0
A/T 15617 Ig-108 50 rs1467341061 0.0681 -0.653 0.051 N 0.307 0.042 0.180583059064 gnomAD-4.0.0 1.36969E-06 None None None None N None 0 0 None 0 0 None 0 0 9.0005E-07 1.16015E-05 0
P/H 16311 Ig-110 50 rs763372996 0.3399 0.066 1.0 N 0.657 0.376 0.306695030598 gnomAD-2.1.1 1.61E-05 None None None None N None 0 0 None 0 0 None 0 None 0 3.57E-05 0
P/H 16311 Ig-110 50 rs763372996 0.3399 0.066 1.0 N 0.657 0.376 0.306695030598 gnomAD-3.1.2 3.29E-05 None None None None N None 2.42E-05 0 0 0 0 None 0 0 5.89E-05 0 0
P/H 16311 Ig-110 50 rs763372996 0.3399 0.066 1.0 N 0.657 0.376 0.306695030598 gnomAD-4.0.0 1.73673E-05 None None None None N None 1.33772E-05 0 None 0 0 None 0 0 2.12018E-05 0 3.20616E-05
P/L 16311 Ig-110 50 None 0.1969 None 0.999 N 0.663 0.38 0.379366414296 gnomAD-4.0.0 6.84726E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99896E-07 0 0
P/S 16311 Ig-110 50 None 0.183 None 0.998 N 0.621 0.293 0.229264304666 gnomAD-4.0.0 1.59404E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43369E-05 0
H/R 17007 Ig-111 53 None 0.1235 None 0.523 N 0.159 0.139 0.0986583533028 gnomAD-4.0.0 1.59322E-06 None None None None I None 0 0 None 0 0 None 0 0 2.86205E-06 0 0
K/N 17329 Ig-112 79 rs1463878310 0.2662 0.309 0.055 N 0.377 0.058 0.0806252709748 gnomAD-2.1.1 4.07E-06 None None None None I None 0 0 None 0 5.66E-05 None 0 None 0 0 0
K/N 17329 Ig-112 79 rs1463878310 0.2662 0.309 0.055 N 0.377 0.058 0.0806252709748 gnomAD-4.0.0 6.85839E-07 None None None None I None 0 0 None 0 2.5346E-05 None 0 0 0 0 0
G/E 17724 Ig-113 48 None 0.3993 None 1.0 N 0.715 0.397 0.306053231325 gnomAD-4.0.0 1.36881E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79945E-06 0 0
G/V 17724 Ig-113 48 rs1385094780 0.5672 -0.236 1.0 N 0.772 0.359 0.431602765429 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
G/V 17724 Ig-113 48 rs1385094780 0.5672 -0.236 1.0 N 0.772 0.359 0.431602765429 gnomAD-4.0.0 6.84406E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99727E-07 0 0
E/G 18025 Ig-114 58 None 0.3802 None 0.625 N 0.612 0.112 0.214338557667 gnomAD-4.0.0 1.59332E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86226E-06 0 0
E/K 18025 Ig-114 58 rs2054470493 0.2921 None 0.801 N 0.563 0.138 0.191931220699 gnomAD-4.0.0 1.5934E-06 None None None None N None 0 0 None 0 2.78164E-05 None 0 0 0 0 0
E/D 18439 Ig-115 58 None 0.0941 None 0.001 N 0.114 0.037 0.292787519742 gnomAD-4.0.0 1.37737E-06 None None None None N None 0 0 None 0 5.06175E-05 None 0 0 0 0 0
E/G 18439 Ig-115 58 None 0.102 None 0.549 N 0.242 0.199 0.394230963961 gnomAD-4.0.0 1.61583E-06 None None None None N None 0 0 None 0 0 None 0 0 2.88424E-06 0 0
E/K 18439 Ig-115 58 rs866683190 0.1173 0.799 0.004 N 0.145 0.208 0.342865806769 gnomAD-2.1.1 4.23E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9.21E-06 0
E/K 18439 Ig-115 58 rs866683190 0.1173 0.799 0.004 N 0.145 0.208 0.342865806769 gnomAD-4.0.0 4.14132E-06 None None None None N None 0 0 None 0 0 None 0 1.0556E-03 0 0 0
D/A 18744 Ig-116 57 None 0.1881 None 0.896 N 0.369 0.298 0.290962096972 gnomAD-4.0.0 2.40064E-06 None None None None I None 6.33473E-05 0 None 0 0 None 0 0 0 0 3.66327E-05
A/P 19143 Ig-117 49 None 0.2009 None 0.896 N 0.445 0.34 0.420939154896 gnomAD-4.0.0 1.59228E-06 None None None None N None 0 2.28843E-05 None 0 0 None 0 0 0 0 0
A/V 19143 Ig-117 49 rs540167353 0.1787 0.032 0.004 N 0.282 0.122 0.345175991111 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
A/V 19143 Ig-117 49 rs540167353 0.1787 0.032 0.004 N 0.282 0.122 0.345175991111 1000 genomes 1.99681E-04 None None None None N None 0 1.4E-03 None None 0 0 None None None 0 None
A/V 19143 Ig-117 49 rs540167353 0.1787 0.032 0.004 N 0.282 0.122 0.345175991111 gnomAD-4.0.0 6.57289E-06 None None None None N None 0 6.5445E-05 None 0 0 None 0 0 0 0 0
P/A 19439 Ig-118 49 rs368847168 0.057 0.023 None N 0.184 0.069 None 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
P/A 19439 Ig-118 49 rs368847168 0.057 0.023 None N 0.184 0.069 None 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
P/A 19439 Ig-118 49 rs368847168 0.057 0.023 None N 0.184 0.069 None gnomAD-4.0.0 6.57869E-06 None None None None N None 2.41488E-05 0 None 0 0 None 0 0 0 0 0
P/L 19439 Ig-118 49 None 0.0927 None 0.062 N 0.347 0.206 0.195762928549 gnomAD-4.0.0 4.80129E-06 None None None None N None 0 0 None 0 0 None 0 0 5.25001E-06 0 0
P/S 19439 Ig-118 49 rs368847168 0.0842 -0.131 0.027 N 0.323 0.067 None gnomAD-2.1.1 1.07E-05 None None None None N None 0 0 None 0 0 None 0 None 4E-05 1.56E-05 0
P/S 19439 Ig-118 49 rs368847168 0.0842 -0.131 0.027 N 0.323 0.067 None 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
P/S 19439 Ig-118 49 rs368847168 0.0842 -0.131 0.027 N 0.323 0.067 None gnomAD-4.0.0 4.33893E-06 None None None None N None 0 0 None 0 0 None 1.56235E-05 0 4.2385E-06 1.0981E-05 0
P/T 19439 Ig-118 49 None 0.074 -0.15 0.002 N 0.246 0.126 0.17948927462 gnomAD-2.1.1 3.19E-05 None None None None N None 1.14837E-04 0 None 0 0 None 0 None 0 0 0
P/T 19439 Ig-118 49 None 0.074 -0.15 0.002 N 0.246 0.126 0.17948927462 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
P/T 19439 Ig-118 49 None 0.074 -0.15 0.002 N 0.246 0.126 0.17948927462 gnomAD-4.0.0 6.57869E-06 None None None None N None 2.41488E-05 0 None 0 0 None 0 0 0 0 0
L/I 20529 Ig-121 51 None 0.0853 None 0.811 N 0.277 0.111 0.451407941134 gnomAD-4.0.0 6.84432E-07 None None None None N None 0 2.23754E-05 None 0 0 None 0 0 0 0 0
L/P 20529 Ig-121 51 rs777103102 0.2215 0.027 0.995 N 0.475 0.434 0.473695954338 gnomAD-2.1.1 1.61E-05 None None None None N None 0 8.71E-05 None 0 0 None 0 None 0 8.91E-06 0
L/P 20529 Ig-121 51 rs777103102 0.2215 0.027 0.995 N 0.475 0.434 0.473695954338 gnomAD-3.1.2 1.97E-05 None None None None N None 4.83E-05 6.55E-05 0 0 0 None 0 0 0 0 0
L/P 20529 Ig-121 51 rs777103102 0.2215 0.027 0.995 N 0.475 0.434 0.473695954338 gnomAD-4.0.0 1.02561E-05 None None None None N None 3.38467E-05 8.4786E-05 None 0 0 None 0 0 2.39469E-06 0 0
D/G 21226 Ig-123 50 rs879061715 0.493 None 1.0 N 0.595 0.468 None 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
D/E 21519 Ig-124 51 rs1336928920 0.0873 -0.415 None N 0.098 0.06 0.0954503805726 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
D/E 21519 Ig-124 51 rs1336928920 0.0873 -0.415 None N 0.098 0.06 0.0954503805726 gnomAD-4.0.0 6.84384E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99687E-07 0 0
R/Q 21916 Ig-125 51 rs148849567 0.1342 0.104 0.985 N 0.294 0.148 None gnomAD-2.1.1 4.41396E-04 None None None None N None 4.04605E-03 4.00091E-04 None 0 0 None 9.89E-05 None 0 3.97E-05 4.27107E-04
R/Q 21916 Ig-125 51 rs148849567 0.1342 0.104 0.985 N 0.294 0.148 None gnomAD-3.1.2 1.25643E-03 None None None None N None 4.08055E-03 1.04849E-03 0 0 0 None 0 0 4.41E-05 0 1.43541E-03
R/Q 21916 Ig-125 51 rs148849567 0.1342 0.104 0.985 N 0.294 0.148 None 1000 genomes 7.98722E-04 None None None None N None 3E-03 0 None None 0 0 None None None 0 None
R/Q 21916 Ig-125 51 rs148849567 0.1342 0.104 0.985 N 0.294 0.148 None gnomAD-4.0.0 2.58207E-04 None None None None N None 4.16333E-03 6.85756E-04 None 3.38341E-05 0 None 0 0 3.1399E-05 5.50879E-05 3.20832E-04
R/W 21916 Ig-125 51 rs200155485 0.3375 -0.488 1.0 N 0.271 0.344 None gnomAD-2.1.1 1.14311E-04 None None None None N None 6.57E-05 5.87E-05 None 1.80252E-03 0 None 6.59E-05 None 0 4.52E-05 0
R/W 21916 Ig-125 51 rs200155485 0.3375 -0.488 1.0 N 0.271 0.344 None gnomAD-3.1.2 9.87E-05 None None None None N None 7.25E-05 1.96541E-04 0 1.44009E-03 0 None 0 0 5.89E-05 0 0
R/W 21916 Ig-125 51 rs200155485 0.3375 -0.488 1.0 N 0.271 0.344 None gnomAD-4.0.0 6.82838E-05 None None None None N None 6.68592E-05 8.36568E-05 None 1.69193E-03 0 None 0 1.64799E-04 3.30967E-05 3.30535E-05 1.1232E-04
D/E 22314 Ig-126 50 None 0.1756 None 0.02 N 0.243 0.053 0.0954503805726 gnomAD-4.0.0 1.59247E-06 None None None None N None 0 0 None 0 0 None 1.88317E-05 0 0 0 0
D/N 22314 Ig-126 50 rs768380109 0.159 -0.397 0.939 N 0.398 0.228 0.190952846119 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
D/N 22314 Ig-126 50 rs768380109 0.159 -0.397 0.939 N 0.398 0.228 0.190952846119 gnomAD-4.0.0 6.8444E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99675E-07 0 0
D/Y 22314 Ig-126 50 rs768380109 0.4326 -0.205 0.999 N 0.635 0.297 0.448099371145 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
D/Y 22314 Ig-126 50 rs768380109 0.4326 -0.205 0.999 N 0.635 0.297 0.448099371145 gnomAD-3.1.2 4.6E-05 None None None None N None 0 0 0 0 7.77001E-04 None 0 0 4.41E-05 0 0
D/Y 22314 Ig-126 50 rs768380109 0.4326 -0.205 0.999 N 0.635 0.297 0.448099371145 gnomAD-4.0.0 1.61168E-05 None None None None N None 0 0 None 0 1.34156E-04 None 0 0 1.44131E-05 1.09835E-05 3.20277E-05
A/V 22603 Ig-127 44 rs199583938 0.1127 -0.053 0.958 N 0.291 0.163 0.322510055762 gnomAD-2.1.1 4.64E-05 None None None None N None 1.65399E-04 0 None 0 1.02817E-04 None 9.81E-05 None 0 3.13E-05 0
A/V 22603 Ig-127 44 rs199583938 0.1127 -0.053 0.958 N 0.291 0.163 0.322510055762 gnomAD-3.1.2 9.87E-05 None None None None N None 2.17286E-04 0 0 0 1.94099E-04 None 9.43E-05 0 4.41E-05 2.07211E-04 0
A/V 22603 Ig-127 44 rs199583938 0.1127 -0.053 0.958 N 0.291 0.163 0.322510055762 gnomAD-4.0.0 3.96696E-05 None None None None N None 1.87001E-04 0 None 0 8.92738E-05 None 1.56255E-05 1.64474E-04 2.79757E-05 1.20786E-04 0
P/A 23000 Ig-128 51 None 0.0961 None 0.996 N 0.534 0.281 0.163833314356 gnomAD-4.0.0 6.84358E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15953E-05 0
P/T 23000 Ig-128 51 None 0.1309 None 0.884 N 0.33 0.264 0.267299060538 gnomAD-4.0.0 1.36872E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79921E-06 0 0
A/V 23686 Ig-130 50 rs55903402 0.112 0.06 0.98 N 0.327 0.152 None gnomAD-2.1.1 2.5E-05 None None None None N None 4.13E-05 2.83E-05 None 0 0 None 0 None 4E-05 3.13E-05 0
A/V 23686 Ig-130 50 rs55903402 0.112 0.06 0.98 N 0.327 0.152 None gnomAD-3.1.2 5.26E-05 None None None None N None 4.83E-05 0 0 0 0 None 9.42E-05 0 5.88E-05 2.07211E-04 0
A/V 23686 Ig-130 50 rs55903402 0.112 0.06 0.98 N 0.327 0.152 None gnomAD-4.0.0 2.2316E-05 None None None None N None 2.67037E-05 1.6675E-05 None 0 0 None 4.68838E-05 0 2.03461E-05 2.19631E-05 6.40718E-05
D/E 24082 Ig-131 54 None 0.2469 None 1.0 N 0.419 0.261 0.203808441222 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
S/G 24479 Ig-132 49 rs1303034746 0.0893 None 0.815 N 0.249 0.098 0.0716867268079 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
S/G 24479 Ig-132 49 rs1303034746 0.0893 None 0.815 N 0.249 0.098 0.0716867268079 gnomAD-4.0.0 2.56331E-06 None None None None N None 3.38513E-05 0 None 0 0 None 0 0 0 0 0
D/N 25164 Ig-134 54 rs192468365 0.0995 0.079 0.312 N 0.166 0.172 None gnomAD-2.1.1 6.07E-05 None None None None N None 4.13E-05 2.54828E-04 None 0 1.02944E-04 None 3.27E-05 None 0 2.34E-05 1.40528E-04
D/N 25164 Ig-134 54 rs192468365 0.0995 0.079 0.312 N 0.166 0.172 None gnomAD-3.1.2 1.57824E-04 None None None None N None 4.83E-05 1.31182E-03 0 0 0 None 0 0 2.94E-05 0 0
D/N 25164 Ig-134 54 rs192468365 0.0995 0.079 0.312 N 0.166 0.172 None 1000 genomes 5.99042E-04 None None None None N None 0 4.3E-03 None None 0 0 None None None 0 None
D/N 25164 Ig-134 54 rs192468365 0.0995 0.079 0.312 N 0.166 0.172 None gnomAD-4.0.0 4.02865E-05 None None None None N None 4.00064E-05 5.0025E-04 None 0 6.69792E-05 None 0 0 8.47744E-06 5.49016E-05 2.24151E-04
D/N 26246 Ig-137 54 rs866667558 0.1325 None 0.978 N 0.59 0.345 0.231231049324 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.66327E-05
V/I 26643 Ig-138 50 rs770413213 0.0562 -0.12 None N 0.156 0.045 0.101711395817 gnomAD-4.0.0 1.59148E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85879E-06 0 0
I/V 27329 Ig-140 52 None 0.0745 None 0.012 N 0.195 0.067 0.0846915920261 gnomAD-4.0.0 4.78953E-06 None None None None N None 0 0 None 0 0 None 0 0 6.29641E-06 0 0
S/G 27726 Ig-141 51 None 0.0761 None 0.003 N 0.197 0.067 None gnomAD-4.0.0 8.89541E-06 None None None None N None 0 0 None 0 0 None 0 0 1.16936E-05 0 0
S/R 27726 Ig-141 51 rs1704233145 0.6146 None 0.015 N 0.259 0.143 0.183819452728 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/R 27726 Ig-141 51 rs1704233145 0.6146 None 0.015 N 0.259 0.143 0.183819452728 gnomAD-4.0.0 6.57436E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47063E-05 0 0
K/N 28015 Ig-142 53 rs1457024696 0.2856 0.335 0.988 N 0.61 0.174 0.0986583533028 gnomAD-2.1.1 4.06E-06 None None None None N None 0 2.91E-05 None 0 0 None 0 None 0 0 0
K/N 28015 Ig-142 53 rs1457024696 0.2856 0.335 0.988 N 0.61 0.174 0.0986583533028 gnomAD-4.0.0 1.59264E-06 None None None None N None 0 2.28896E-05 None 0 0 None 0 0 0 0 0
D/E 28410 Ig-143 53 rs762042364 0.1191 -0.147 0.472 N 0.209 0.089 0.112648838833 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
D/E 28410 Ig-143 53 rs762042364 0.1191 -0.147 0.472 N 0.209 0.089 0.112648838833 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
D/E 28410 Ig-143 53 rs762042364 0.1191 -0.147 0.472 N 0.209 0.089 0.112648838833 gnomAD-4.0.0 6.40635E-06 None None None None N None 0 0 None 0 0 None 0 0 1.19645E-05 0 0
D/N 28410 Ig-143 53 None 0.101 None 0.012 N 0.099 0.156 0.0954503805726 gnomAD-4.0.0 1.59153E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.02462E-05
D/V 28410 Ig-143 53 rs1425562025 0.1621 0.264 0.521 N 0.313 0.244 0.42130639912 gnomAD-2.1.1 3.18E-05 None None None None N None 1.14732E-04 0 None 0 0 None 0 None 0 0 0
D/V 28410 Ig-143 53 rs1425562025 0.1621 0.264 0.521 N 0.313 0.244 0.42130639912 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
D/V 28410 Ig-143 53 rs1425562025 0.1621 0.264 0.521 N 0.313 0.244 0.42130639912 gnomAD-4.0.0 6.5697E-06 None None None None N None 2.41138E-05 0 None 0 0 None 0 0 0 0 0
D/A 28805 Ig-144 51 rs1028838136 0.1325 -0.405 0.062 N 0.317 0.112 0.216624796971 gnomAD-2.1.1 4.2E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9.24E-06 0
D/A 28805 Ig-144 51 rs1028838136 0.1325 -0.405 0.062 N 0.317 0.112 0.216624796971 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 0 None 0 0 2.94E-05 0 0
D/A 28805 Ig-144 51 rs1028838136 0.1325 -0.405 0.062 N 0.317 0.112 0.216624796971 gnomAD-4.0.0 5.20649E-06 None None None None N None 0 0 None 0 0 None 0 0 9.72545E-06 0 0
D/G 28805 Ig-144 51 rs1028838136 0.1454 -0.842 0.062 N 0.269 0.088 0.143124449307 gnomAD-2.1.1 6.38E-05 None None None None N None 0 0 None 0 0 None 0 None 0 1.29735E-04 0
D/G 28805 Ig-144 51 rs1028838136 0.1454 -0.842 0.062 N 0.269 0.088 0.143124449307 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
D/G 28805 Ig-144 51 rs1028838136 0.1454 -0.842 0.062 N 0.269 0.088 0.143124449307 gnomAD-4.0.0 1.97342E-05 None None None None N None 0 0 None 0 0 None 0 0 4.41189E-05 0 0
A/V 29097 Ig-145 53 None 0.1172 None 0.961 N 0.279 0.316 0.324436698001 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
T/M 29493 Ig-146 50 rs955762474 0.0942 0.091 1.0 N 0.455 0.287 0.299086750705 gnomAD-2.1.1 8.06E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.9E-06 1.66003E-04
T/M 29493 Ig-146 50 rs955762474 0.0942 0.091 1.0 N 0.455 0.287 0.299086750705 gnomAD-4.0.0 2.12127E-05 None None None None N None 0 0 None 0 0 None 0 3.46861E-04 2.15876E-05 1.15939E-05 6.62712E-05
E/V 30184 Ig-148 53 rs754965003 0.2656 -0.015 0.238 N 0.259 0.197 0.366277470483 gnomAD-2.1.1 8.56E-06 None None None None N None 0 3.12E-05 None 0 0 None 0 None 0 9.29E-06 0
E/V 30184 Ig-148 53 rs754965003 0.2656 -0.015 0.238 N 0.259 0.197 0.366277470483 gnomAD-4.0.0 4.89221E-06 None None None None N None 0 2.40223E-05 None 0 0 None 0 0 5.82401E-06 0 0
L/F 30579 Ig-149 48 None 0.2254 None 0.982 N 0.439 0.193 0.344017737713 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
L/P 30579 Ig-149 48 rs765022890 0.1897 -0.188 0.997 N 0.552 0.425 None gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 5.57E-05 None 0 None 0 0 0
L/P 30579 Ig-149 48 rs765022890 0.1897 -0.188 0.997 N 0.552 0.425 None gnomAD-3.1.2 1.97E-05 None None None None I None 7.24E-05 0 0 0 0 None 0 0 0 0 0
L/P 30579 Ig-149 48 rs765022890 0.1897 -0.188 0.997 N 0.552 0.425 None gnomAD-4.0.0 3.7182E-06 None None None None I None 4.00641E-05 0 None 0 6.68479E-05 None 0 0 0 0 0
L/V 30579 Ig-149 48 None 0.1274 None 0.76 N 0.446 0.084 0.262662153117 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
D/E 30976 Ig-150 50 None 0.1149 None 0.892 N 0.391 0.139 0.0986583533028 gnomAD-4.0.0 6.8419E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99459E-07 0 0
D/N 30976 Ig-150 50 rs777345218 0.1139 -0.4 0.204 N 0.25 0.137 0.112648838833 gnomAD-2.1.1 7.14E-06 None None None None N None 8.26E-05 0 None 0 0 None 0 None 0 0 0
D/N 30976 Ig-150 50 rs777345218 0.1139 -0.4 0.204 N 0.25 0.137 0.112648838833 gnomAD-3.1.2 1.31E-05 None None None None N None 4.83E-05 0 0 0 0 None 0 0 0 0 0
D/N 30976 Ig-150 50 rs777345218 0.1139 -0.4 0.204 N 0.25 0.137 0.112648838833 gnomAD-4.0.0 5.12397E-06 None None None None N None 6.76613E-05 0 None 0 0 None 0 0 0 0 0
D/Y 30976 Ig-150 50 None 0.3185 None 0.056 N 0.441 0.256 0.375147631797 gnomAD-4.0.0 1.59117E-06 None None None None N None 0 0 None 0 0 None 1.8826E-05 0 0 0 0
K/N 31268 Ig-151 51 None 0.2998 None 0.98 N 0.369 0.145 0.134241683229 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
K/T 31268 Ig-151 51 rs200766837 0.1314 -0.002 0.997 N 0.389 0.433 None gnomAD-2.1.1 4.78653E-04 None None None None N None 0 0 None 0 0 None 0 None 1.91892E-03 6.33456E-04 7.02445E-04
K/T 31268 Ig-151 51 rs200766837 0.1314 -0.002 0.997 N 0.389 0.433 None gnomAD-3.1.2 1.83995E-04 None None None None N None 0 0 0 0 0 None 1.13037E-03 0 2.20478E-04 0 4.78011E-04
K/T 31268 Ig-151 51 rs200766837 0.1314 -0.002 0.997 N 0.389 0.433 None Mihailov (2016) None IH het None None N Genetic analysis of single EST family; co-segregates within family (strongest candidate); incomplete penetrance (n = 5, 5 affected (total 9; 1 unaffected carrier, 1 condition in absence of variant)); not found in ethnic controls None None None None None None None None None None None
K/T 31268 Ig-151 51 rs200766837 0.1314 -0.002 0.997 N 0.389 0.433 None gnomAD-4.0.0 3.15406E-04 None None None None N None 1.33469E-05 0 None 0 0 None 1.85885E-03 0 3.06818E-04 0 4.32263E-04
G/D 31668 Ig-152 48 rs1196141227 0.24 -0.88 0.175 N 0.43 0.282 0.202949470691 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
G/D 31668 Ig-152 48 rs1196141227 0.24 -0.88 0.175 N 0.43 0.282 0.202949470691 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
G/D 31668 Ig-152 48 rs1196141227 0.24 -0.88 0.175 N 0.43 0.282 0.202949470691 gnomAD-4.0.0 6.5722E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.07297E-04 0
G/S 31668 Ig-152 48 rs577136681 0.0905 -1.132 None N 0.133 0.116 0.170165803431 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
G/S 31668 Ig-152 48 rs577136681 0.0905 -1.132 None N 0.133 0.116 0.170165803431 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 0 2.07211E-04 0
G/S 31668 Ig-152 48 rs577136681 0.0905 -1.132 None N 0.133 0.116 0.170165803431 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 0 None None None 1E-03 None
G/S 31668 Ig-152 48 rs577136681 0.0905 -1.132 None N 0.133 0.116 0.170165803431 gnomAD-4.0.0 2.47861E-06 None None None None N None 0 0 None 0 0 None 0 0 2.54286E-06 1.09796E-05 0
E/D 32065 Ig-153 49 None 0.063 None None N 0.126 0.063 0.0954503805726 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
E/K 32065 Ig-153 49 rs1695839885 0.2097 None 0.117 N 0.363 0.134 0.180583059064 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
E/K 32065 Ig-153 49 rs1695839885 0.2097 None 0.117 N 0.363 0.134 0.180583059064 gnomAD-4.0.0 6.57479E-06 None None None None N None 2.41441E-05 0 None 0 0 None 0 0 0 0 0
T/I 32359 Ig-154 53 rs759803579 0.1577 0.048 0.175 N 0.392 0.043 0.112648838833 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
T/I 32359 Ig-154 53 rs759803579 0.1577 0.048 0.175 N 0.392 0.043 0.112648838833 gnomAD-4.0.0 2.05261E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99465E-07 0 3.31323E-05
G/R 33153 Ig-156 53 None 0.8779 None 1.0 N 0.671 0.585 0.553388312184 gnomAD-4.0.0 5.47378E-06 None None None None N None 0 0 None 0 0 None 0 0 7.19581E-06 0 0
E/K 33249 Ig-157 47 None 0.3739 None 0.999 N 0.557 0.38 0.223847106136 gnomAD-4.0.0 1.36878E-06 None None None None N None 0 0 None 0 5.04541E-05 None 0 0 0 0 0
G/D 33550 Ig-158 55 rs370253076 0.9262 -0.268 1.0 N 0.663 0.595 None gnomAD-2.1.1 4.03E-06 None None None None N None 0 2.91E-05 None 0 0 None 0 None 0 0 0
G/D 33550 Ig-158 55 rs370253076 0.9262 -0.268 1.0 N 0.663 0.595 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
G/D 33550 Ig-158 55 rs370253076 0.9262 -0.268 1.0 N 0.663 0.595 None gnomAD-4.0.0 2.56736E-06 None None None None N None 1.69342E-05 1.69543E-05 None 0 0 None 0 0 0 0 0
G/S 33550 Ig-158 55 rs775985787 0.6487 -0.593 1.0 D 0.68 0.63 0.511790803624 gnomAD-2.1.1 1.07E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.35E-05 0
G/S 33550 Ig-158 55 rs775985787 0.6487 -0.593 1.0 D 0.68 0.63 0.511790803624 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
G/S 33550 Ig-158 55 rs775985787 0.6487 -0.593 1.0 D 0.68 0.63 0.511790803624 gnomAD-4.0.0 1.86106E-06 None None None None N None 0 0 None 0 0 None 0 0 2.54542E-06 0 0
R/S 33648 Ig-159 53 None 0.948 None 1.0 N 0.658 0.257 0.181679512989 gnomAD-4.0.0 1.59125E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85825E-06 0 0
R/T 33648 Ig-159 53 None 0.9587 None 1.0 N 0.652 0.47 0.315903272564 gnomAD-4.0.0 3.18251E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71654E-06 0 0
G/D 34415 Ig-162 53 rs919270464 0.7526 -0.839 0.275 N 0.32 0.406 0.413635276047 gnomAD-2.1.1 3.19E-05 None None None None N None 1.14811E-04 0 None 0 0 None 0 None 0 0 0
G/D 34415 Ig-162 53 rs919270464 0.7526 -0.839 0.275 N 0.32 0.406 0.413635276047 gnomAD-3.1.2 6.57E-06 None None None None N None 2.42E-05 0 0 0 0 None 0 0 0 0 0
G/D 34415 Ig-162 53 rs919270464 0.7526 -0.839 0.275 N 0.32 0.406 0.413635276047 gnomAD-4.0.0 6.57436E-06 None None None None N None 2.41534E-05 0 None 0 0 None 0 0 0 0 0
G/R 34415 Ig-162 53 rs1170678153 0.9565 -0.678 0.999 N 0.664 0.757 0.786541166568 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
G/R 34415 Ig-162 53 rs1170678153 0.9565 -0.678 0.999 N 0.664 0.757 0.786541166568 gnomAD-4.0.0 1.59181E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85775E-06 0 0
S/N 34994 Ig-163 53 rs774081159 0.4021 0.064 0.994 N 0.371 0.223 0.192905019026 gnomAD-2.1.1 8.03E-06 None None None None I None 0 0 None 0 0 None 0 None 0 1.77E-05 0
S/N 34994 Ig-163 53 rs774081159 0.4021 0.064 0.994 N 0.371 0.223 0.192905019026 gnomAD-4.0.0 3.42073E-06 None None None None I None 0 0 None 0 0 None 0 1.7337E-04 3.59759E-06 0 0
K/E 35181 Ig-164 53 rs903998878 0.2978 None 0.001 N 0.083 0.08 0.158396225186 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
K/E 35181 Ig-164 53 rs903998878 0.2978 None 0.001 N 0.083 0.08 0.158396225186 gnomAD-4.0.0 6.56978E-06 None None None None N None 2.4122E-05 0 None 0 0 None 0 0 0 0 0
D/G 35339 Ig-165 54 rs1688685029 0.3277 None 0.997 N 0.654 0.475 0.218845423259 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
D/G 35339 Ig-165 54 rs1688685029 0.3277 None 0.997 N 0.654 0.475 0.218845423259 gnomAD-4.0.0 2.02976E-06 None None None None N None 0 0 None 0 0 None 0 0 2.40981E-06 0 0
K/N 35472 Ig-166 53 rs776781963 0.1997 -0.043 0.001 N 0.117 0.111 0.0762999501168 gnomAD-2.1.1 4.06E-06 None None None None N None 0 0 None 0 5.64E-05 None 0 None 0 0 0
K/N 35472 Ig-166 53 rs776781963 0.1997 -0.043 0.001 N 0.117 0.111 0.0762999501168 gnomAD-4.0.0 6.85476E-07 None None None None N None 0 0 None 0 2.52576E-05 None 0 0 0 0 0
G/D 35657 Ig-167 51 None 0.3966 None 1.0 N 0.613 0.533 0.171388866994 gnomAD-4.0.0 1.59445E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86623E-06 0 0
G/S 35657 Ig-167 51 rs2154131322 0.1683 None 1.0 N 0.618 0.497 0.152612264143 gnomAD-4.0.0 1.59416E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86569E-06 0 0
R/K 35754 Ig-168 53 rs1687469924 0.0944 None None N 0.161 0.089 0.0551355673512 gnomAD-4.0.0 3.18203E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71546E-06 0 0
D/E 35951 Ig-169 55 rs770407405 0.1198 -0.012 None N 0.118 0.111 0.0297737177859 gnomAD-2.1.1 3.21E-05 None None None -0.179(OBSL1) -0.023(OBSCN) N None 0 0 None 0 0 None 2.61438E-04 None 0 0 0
D/E 35951 Ig-169 55 rs770407405 0.1198 -0.012 None N 0.118 0.111 0.0297737177859 gnomAD-3.1.2 6.57E-06 None None None -0.179(OBSL1) -0.023(OBSCN) N None 0 0 0 0 0 None 0 0 0 2.07469E-04 0
D/E 35951 Ig-169 55 rs770407405 0.1198 -0.012 None N 0.118 0.111 0.0297737177859 gnomAD-4.0.0 9.91405E-06 None None None -0.179(OBSL1) -0.023(OBSCN) N None 0 0 None 0 0 None 0 0 0 1.75674E-04 0
D/G 35951 Ig-169 55 rs1212826574 0.167 None 0.165 N 0.277 0.175 0.119812018005 gnomAD-4.0.0 1.36828E-06 None None None -0.343(OBSL1) -0.272(OBSCN) N None 0 0 None 0 0 None 0 0 1.7988E-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.