Structural position:

  • Domain Type: Ig
  • Aligned Position: 55
  • Secondary Structure Element: e
  • Secondary Structure Region: β-strand C'

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
Q/L 44 Ig-1 39 rs867308852 0.2207 0.433 0.99 N 0.472 0.591 0.65458738856 gnomAD-2.1.1 2.79E-05 None None None -0.026(TCAP) N None 0 0 None 0 3.81679E-04 None 0 None 0 0 0
Q/L 44 Ig-1 39 rs867308852 0.2207 0.433 0.99 N 0.472 0.591 0.65458738856 gnomAD-3.1.2 6.57E-06 None None None -0.026(TCAP) N None 0 0 0 0 1.9253E-04 None 0 0 0 0 0
Q/L 44 Ig-1 39 rs867308852 0.2207 0.433 0.99 N 0.472 0.591 0.65458738856 gnomAD-4.0.0 5.57617E-06 None None None -0.026(TCAP) N None 0 0 None 0 1.78301E-04 None 0 0 0 0 1.60031E-05
Q/R 44 Ig-1 39 rs867308852 0.1366 None 0.985 N 0.481 0.438 0.283371740733 gnomAD-3.1.2 6.57E-06 None None None -0.404(TCAP) N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
Q/R 44 Ig-1 39 rs867308852 0.1366 None 0.985 N 0.481 0.438 0.283371740733 gnomAD-4.0.0 2.4783E-06 None None None -0.404(TCAP) N None 1.33479E-05 0 None 0 0 None 0 0 2.54234E-06 0 0
A/T 142 Ig-2 39 rs765532193 0.1366 -0.275 0.944 N 0.591 0.278 0.332646915603 gnomAD-2.1.1 3.98E-06 None None None -0.416(TCAP) N None 6.15E-05 0 None 0 0 None 0 None 0 0 0
A/T 142 Ig-2 39 rs765532193 0.1366 -0.275 0.944 N 0.591 0.278 0.332646915603 gnomAD-3.1.2 1.31E-05 None None None -0.416(TCAP) N None 4.83E-05 0 0 0 0 None 0 0 0 0 0
A/T 142 Ig-2 39 rs765532193 0.1366 -0.275 0.944 N 0.591 0.278 0.332646915603 gnomAD-4.0.0 3.84156E-06 None None None -0.416(TCAP) N None 3.38169E-05 0 None 0 0 None 0 0 2.39169E-06 0 0
Y/C 981 Ig-3 39 rs1312572604 0.6933 0.219 1.0 N 0.663 0.583 0.696195976467 gnomAD-2.1.1 3.99E-06 None None None None N None 0 0 None 0 0 None 0 None 4.62E-05 0 0
V/F 1120 Ig-4 39 None 0.3147 None 0.003 N 0.233 0.171 0.651281849334 gnomAD-4.0.0 1.59053E-06 None None None None N None 0 0 None 0 0 None 0 0 2.8566E-06 0 0
D/H 1594 Ig-7 39 rs2092324432 0.761 None 0.974 N 0.677 0.451 0.408579541211 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/H 1594 Ig-7 39 rs2092324432 0.761 None 0.974 N 0.677 0.451 0.408579541211 gnomAD-4.0.0 6.56987E-06 None None None None N None 0 0 None 0 0 None 0 0 1.46981E-05 0 0
D/V 1594 Ig-7 39 rs1024757348 0.651 0.243 0.83 N 0.718 0.565 0.533083562301 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
D/V 1594 Ig-7 39 rs1024757348 0.651 0.243 0.83 N 0.718 0.565 0.533083562301 gnomAD-4.0.0 9.57735E-06 None None None None N None 0 0 None 0 0 None 0 0 1.25906E-05 0 0
Q/R 1879 Ig-9 39 rs1237628152 0.6421 0.484 0.993 N 0.408 0.391 0.221734844693 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
Q/R 1879 Ig-9 39 rs1237628152 0.6421 0.484 0.993 N 0.408 0.391 0.221734844693 gnomAD-3.1.2 1.31E-05 None None None None N None 4.82E-05 0 0 0 0 None 0 0 0 0 0
Q/R 1879 Ig-9 39 rs1237628152 0.6421 0.484 0.993 N 0.408 0.391 0.221734844693 gnomAD-4.0.0 3.84135E-06 None None None None N None 3.38135E-05 0 None 0 0 None 0 0 2.3917E-06 0 0
V/F 2116 Ig-10 39 None 0.18 None 0.994 N 0.437 0.292 0.684972698341 gnomAD-4.0.0 1.59079E-06 None None None None N None 0 0 None 0 0 None 0 0 2.8566E-06 0 0
V/I 2116 Ig-10 39 rs1412544693 0.0646 0.147 0.122 N 0.195 0.107 0.350524144436 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
V/I 2116 Ig-10 39 rs1412544693 0.0646 0.147 0.122 N 0.195 0.107 0.350524144436 gnomAD-4.0.0 1.59079E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43271E-05 0
M/T 2212 Ig-11 39 rs2092055359 0.0891 None None N 0.223 0.116 0.533227312814 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 1.92234E-04 None 0 0 0 0 0
M/T 2212 Ig-11 39 rs2092055359 0.0891 None None N 0.223 0.116 0.533227312814 gnomAD-4.0.0 6.57039E-06 None None None None N None 0 0 None 0 1.92234E-04 None 0 0 0 0 0
M/V 2212 Ig-11 39 rs771623139 0.0597 0.325 None N 0.157 0.125 0.130388298395 gnomAD-2.1.1 1.19E-05 None None None None N None 6.15E-05 0 None 0 0 None 0 None 0 1.76E-05 0
M/V 2212 Ig-11 39 rs771623139 0.0597 0.325 None N 0.157 0.125 0.130388298395 gnomAD-4.0.0 7.95391E-06 None None None None N None 5.65547E-05 0 None 0 0 None 0 0 1.14273E-05 0 0
V/M 2304 Ig-12 38 rs1412860664 0.0887 -0.208 0.989 D 0.372 0.18 0.431490205687 gnomAD-2.1.1 3.98E-06 None None None None N None 6.15E-05 0 None 0 0 None 0 None 0 0 0
V/M 2304 Ig-12 38 rs1412860664 0.0887 -0.208 0.989 D 0.372 0.18 0.431490205687 gnomAD-4.0.0 3.18128E-06 None None None None N None 5.65419E-05 0 None 0 0 None 0 0 2.85687E-06 0 0
Q/R 2393 Ig-13 38 rs754687695 0.0824 0.514 0.029 N 0.284 0.163 0.238705975628 gnomAD-2.1.1 1.2E-05 None None None None N None 0 0 None 0 0 None 0 None 4.62E-05 1.76E-05 0
Q/R 2393 Ig-13 38 rs754687695 0.0824 0.514 0.029 N 0.284 0.163 0.238705975628 gnomAD-4.0.0 1.16293E-05 None None None None N None 0 0 None 0 0 None 3.74392E-05 0 8.99306E-06 0 8.27924E-05
E/K 2483 Ig-14 39 None 0.077 None 0.003 N 0.148 0.251 0.255270683199 gnomAD-4.0.0 6.84109E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99318E-07 0 0
K/E 2570 Ig-15 38 rs779361884 0.0971 0.43 None N 0.151 0.239 0.256793551483 gnomAD-2.1.1 2E-05 None None None None N None 0 0 None 0 0 None 1.63409E-04 None 0 0 0
K/E 2570 Ig-15 38 rs779361884 0.0971 0.43 None N 0.151 0.239 0.256793551483 gnomAD-4.0.0 6.84154E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.04345E-04 1.65612E-05
K/M 2570 Ig-15 38 None 0.1805 None 0.171 N 0.273 0.293 0.37479162749 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
K/Q 2570 Ig-15 38 rs779361884 0.0967 None None N 0.119 0.136 0.212008924253 gnomAD-4.0.0 6.84154E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99339E-07 0 0
K/E 2657 Ig-16 37 None 0.1071 None 0.309 N 0.349 0.309 0.315903272564 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
V/D 2745 Ig-17 39 rs759392982 0.2225 -0.01 0.991 D 0.65 0.665 0.783227217476 gnomAD-2.1.1 3.98E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.81E-06 0
V/D 2745 Ig-17 39 rs759392982 0.2225 -0.01 0.991 D 0.65 0.665 0.783227217476 gnomAD-4.0.0 1.59049E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85649E-06 0 0
V/I 2745 Ig-17 39 rs1415984785 0.0733 0.039 0.99 D 0.44 0.276 0.586295999888 gnomAD-2.1.1 3.98E-06 None None None None I None 0 0 None 0 0 None 3.27E-05 None 0 0 0
V/I 2745 Ig-17 39 rs1415984785 0.0733 0.039 0.99 D 0.44 0.276 0.586295999888 gnomAD-4.0.0 1.59049E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.43271E-05 0
V/L 2832 Ig-18 38 rs375549179 0.1387 0.118 0.454 N 0.24 0.219 0.29527378943 gnomAD-2.1.1 1.42E-05 None None None None N None 4.01E-05 0 None 0 0 None 0 None 0 2.33E-05 0
V/L 2832 Ig-18 38 rs375549179 0.1387 0.118 0.454 N 0.24 0.219 0.29527378943 gnomAD-3.1.2 3.94E-05 None None None None N None 4.83E-05 0 0 0 0 None 0 0 5.88E-05 0 0
V/L 2832 Ig-18 38 rs375549179 0.1387 0.118 0.454 N 0.24 0.219 0.29527378943 gnomAD-4.0.0 1.34446E-04 None None None None N None 2.66937E-05 0 None 0 0 None 0 0 1.80506E-04 0 3.20061E-05
V/E 2919 Ig-19 38 None 0.4068 None 1.0 N 0.703 0.585 0.748528830317 gnomAD-4.0.0 1.59046E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85652E-06 0 0
V/L 2919 Ig-19 38 rs1407181153 0.4073 0.065 0.997 N 0.501 0.385 0.494031935134 gnomAD-2.1.1 3.98E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.83E-06 0
V/L 2919 Ig-19 38 rs1407181153 0.4073 0.065 0.997 N 0.501 0.385 0.494031935134 gnomAD-4.0.0 1.59047E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85652E-06 0 0
V/M 2919 Ig-19 38 rs1407181153 0.1666 None 1.0 D 0.629 0.386 0.512766428439 gnomAD-4.0.0 1.59047E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.02133E-05
V/M 3006 Ig-20 38 rs778118930 0.1627 -0.252 1.0 D 0.624 0.278 0.503868428259 gnomAD-2.1.1 1.59E-05 None None None None N None 0 0 None 0 0 None 1.30676E-04 None 0 0 0
V/M 3006 Ig-20 38 rs778118930 0.1627 -0.252 1.0 D 0.624 0.278 0.503868428259 gnomAD-4.0.0 6.84091E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99297E-07 1.04341E-04 0
Q/R 3095 Ig-21 38 None 0.1423 None 0.722 N 0.483 0.395 0.301789629655 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
Q/E 3277 Ig-23 39 None 0.1333 None 0.625 N 0.404 0.313 0.300784259202 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
Q/K 3503 Ig-25 39 rs766605515 0.1161 -0.523 None None None 0.142 None 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
Q/K 3503 Ig-25 39 rs766605515 0.1161 -0.523 None None None 0.142 None gnomAD-4.0.0 3.18222E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.86549E-05 0
Q/P 3503 Ig-25 39 rs2087738229 0.7285 None None None None 0.205 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
Q/P 3503 Ig-25 39 rs2087738229 0.7285 None None None None 0.205 None gnomAD-4.0.0 2.02992E-06 None None None None N None 0 0 None 0 0 None 0 0 2.40992E-06 0 0
A/T 3698 Ig-26 39 None 0.0647 None None None None 0.096 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
V/A 3858 Ig-27 39 rs1242111129 0.1125 -0.723 None N 0.113 0.12 None gnomAD-4.0.0 3.18242E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.43271E-05 3.02407E-05
K/E 4642 Ig-29 37 rs371961804 0.1181 0.449 None N 0.199 0.077 None gnomAD-2.1.1 8.06E-06 None None None None N None 1.29199E-04 0 None 0 0 None 0 None 0 0 0
K/E 4642 Ig-29 37 rs371961804 0.1181 0.449 None N 0.199 0.077 None gnomAD-3.1.2 1.97E-05 None None None None N None 7.23E-05 0 0 0 0 None 0 0 0 0 0
K/E 4642 Ig-29 37 rs371961804 0.1181 0.449 None N 0.199 0.077 None gnomAD-4.0.0 1.97099E-05 None None None None N None 7.23484E-05 0 None 0 0 None 0 0 0 0 0
R/G 4738 Ig-30 39 None 0.4283 None 0.13 N 0.34 0.221 0.310147130316 gnomAD-4.0.0 1.59182E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.43303E-05 0
R/Q 4738 Ig-30 39 rs553541436 0.1318 0.22 0.142 N 0.285 0.094 0.19670166235 gnomAD-2.1.1 2.5E-05 None None None None I None 8.27E-05 0 None 0 5.16E-05 None 3.27E-05 None 0 2.34E-05 0
R/Q 4738 Ig-30 39 rs553541436 0.1318 0.22 0.142 N 0.285 0.094 0.19670166235 gnomAD-3.1.2 5.26E-05 None None None None I None 4.83E-05 0 0 0 0 None 9.42E-05 0 7.35E-05 0 0
R/Q 4738 Ig-30 39 rs553541436 0.1318 0.22 0.142 N 0.285 0.094 0.19670166235 1000 genomes 1.99681E-04 None None None None I None 8E-04 0 None None 0 0 None None None 0 None
R/Q 4738 Ig-30 39 rs553541436 0.1318 0.22 0.142 N 0.285 0.094 0.19670166235 gnomAD-4.0.0 1.03497E-04 None None None None I None 5.33262E-05 1.667E-05 None 0 6.70181E-05 None 3.12578E-05 0 1.25452E-04 3.29475E-05 9.60523E-05
A/T 4833 Ig-31 39 rs1366438638 0.0673 -0.251 None N 0.109 0.093 0.0297737177859 gnomAD-2.1.1 3.19E-05 None None None None N None 0 0 None 0 0 None 0 None 0 6.48E-05 0
A/T 4833 Ig-31 39 rs1366438638 0.0673 -0.251 None N 0.109 0.093 0.0297737177859 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
A/T 4833 Ig-31 39 rs1366438638 0.0673 -0.251 None N 0.109 0.093 0.0297737177859 gnomAD-4.0.0 6.5716E-06 None None None None N None 0 0 None 0 0 None 0 0 1.46968E-05 0 0
A/V 4833 Ig-31 39 rs1284562529 0.0784 0.007 None N 0.155 0.093 0.256283259241 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
A/V 4833 Ig-31 39 rs1284562529 0.0784 0.007 None N 0.155 0.093 0.256283259241 gnomAD-4.0.0 2.05259E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69837E-06 0 0
Q/P 4926 Ig-32 39 rs751919672 0.2861 0.22 0.662 D 0.357 0.416 0.507928266286 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 5.58E-05 None 0 None 0 0 0
E/K 5206 Ig-35 39 None 0.118 None 0.003 N 0.287 0.159 0.297031009988 gnomAD-4.0.0 6.00161E-06 None None None None N None 0 0 None 0 0 None 0 0 6.56251E-06 0 0
R/T 5299 Ig-36 39 rs563456537 0.1737 -0.016 0.006 N 0.293 0.277 0.461058313273 gnomAD-2.1.1 1.04578E-04 None None None None N None 0 0 None 0 0 None 8.49729E-04 None 0 0 0
R/T 5299 Ig-36 39 rs563456537 0.1737 -0.016 0.006 N 0.293 0.277 0.461058313273 gnomAD-3.1.2 5.92E-05 None None None None N None 0 0 0 0 0 None 0 0 0 1.86722E-03 0
R/T 5299 Ig-36 39 rs563456537 0.1737 -0.016 0.006 N 0.293 0.277 0.461058313273 1000 genomes 7.98722E-04 None None None None N None 0 0 None None 0 0 None None None 4.1E-03 None
R/T 5299 Ig-36 39 rs563456537 0.1737 -0.016 0.006 N 0.293 0.277 0.461058313273 gnomAD-4.0.0 5.94866E-05 None None None None N None 0 0 None 0 0 None 0 0 8.47608E-07 1.01021E-03 4.80184E-05
K/E 5395 Ig-37 39 None 0.0896 None 0.012 N 0.311 0.24 0.305730143919 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
K/E 5488 Ig-38 39 None 0.0692 None None N 0.229 0.209 0.319402600006 gnomAD-4.0.0 3.18307E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71713E-06 0 0
K/N 5488 Ig-38 39 rs760521859 0.188 0.227 None N 0.253 0.125 0.1749357433 gnomAD-2.1.1 5.24E-05 None None None None N None 0 3.48331E-04 None 0 0 None 0 None 0 0 1.66223E-04
K/N 5488 Ig-38 39 rs760521859 0.188 0.227 None N 0.253 0.125 0.1749357433 gnomAD-3.1.2 1.97E-05 None None None None N None 0 1.96464E-04 0 0 0 None 0 0 0 0 0
K/N 5488 Ig-38 39 rs760521859 0.188 0.227 None N 0.253 0.125 0.1749357433 gnomAD-4.0.0 1.17751E-05 None None None None N None 0 3.0014E-04 None 0 0 None 0 0 0 0 1.60128E-05
K/R 5488 Ig-38 39 None 0.075 None None N 0.225 0.099 0.308278614506 gnomAD-4.0.0 1.59155E-06 None None None None N None 0 0 None 0 2.77685E-05 None 0 0 0 0 0
R/G 5582 Ig-39 40 None 0.1534 None 0.837 N 0.359 0.318 0.522611632499 gnomAD-4.0.0 1.59119E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85816E-06 0 0
R/I 5582 Ig-39 40 rs1232658661 0.1421 None 0.719 N 0.424 0.309 0.602640947006 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
R/I 5582 Ig-39 40 rs1232658661 0.1421 None 0.719 N 0.424 0.309 0.602640947006 gnomAD-4.0.0 6.57125E-06 None None None None N None 0 6.54707E-05 None 0 0 None 0 0 0 0 0
T/A 5675 Ig-40 39 rs1198124023 0.0666 -0.584 0.625 N 0.263 0.254 0.215869574891 gnomAD-2.1.1 8.04E-06 None None None None N None 0 0 None 0 0 None 6.54E-05 None 0 0 0
T/A 5675 Ig-40 39 rs1198124023 0.0666 -0.584 0.625 N 0.263 0.254 0.215869574891 gnomAD-3.1.2 1.31E-05 None None None None N None 0 0 0 0 0 None 0 0 0 4.14594E-04 0
T/A 5675 Ig-40 39 rs1198124023 0.0666 -0.584 0.625 N 0.263 0.254 0.215869574891 gnomAD-4.0.0 6.19715E-06 None None None None N None 0 0 None 0 0 None 0 0 0 9.88142E-05 1.60113E-05
D/G 5768 Ig-41 39 rs1251438106 0.1138 -0.311 0.117 N 0.405 0.312 0.248417906384 gnomAD-2.1.1 7.14E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.56E-05 0
D/G 5768 Ig-41 39 rs1251438106 0.1138 -0.311 0.117 N 0.405 0.312 0.248417906384 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
D/G 5768 Ig-41 39 rs1251438106 0.1138 -0.311 0.117 N 0.405 0.312 0.248417906384 gnomAD-4.0.0 9.91532E-06 None None None None N None 1.33494E-05 0 None 0 0 None 0 0 1.18665E-05 0 1.60133E-05
D/N 5768 Ig-41 39 rs576904726 0.076 0.285 0.426 N 0.325 0.15 None gnomAD-2.1.1 6.07E-05 None None None None N None 1.23998E-04 5.66E-05 None 0 5.14E-05 None 9.8E-05 None 0 6.25E-05 0
D/N 5768 Ig-41 39 rs576904726 0.076 0.285 0.426 N 0.325 0.15 None gnomAD-3.1.2 6.57E-05 None None None None N None 7.24E-05 1.96515E-04 0 0 1.9305E-04 None 0 0 4.41E-05 0 0
D/N 5768 Ig-41 39 rs576904726 0.076 0.285 0.426 N 0.325 0.15 None 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 1E-03 None None None 0 None
D/N 5768 Ig-41 39 rs576904726 0.076 0.285 0.426 N 0.325 0.15 None gnomAD-4.0.0 6.32078E-05 None None None None N None 1.19994E-04 1.16709E-04 None 0 1.33845E-04 None 3.12451E-05 0 6.10277E-05 3.29395E-05 4.80231E-05
Q/E 5861 Ig-42 39 None 0.074 None 0.001 N 0.151 0.146 0.228597637076 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
Q/E 5957 Ig-43 39 rs201672969 0.0771 0.438 0.101 N 0.295 0.092 0.243972157842 gnomAD-2.1.1 2.15E-05 None None None None N None 8.27E-05 0 None 0 0 None 0 None 0 3.14E-05 0
Q/E 5957 Ig-43 39 rs201672969 0.0771 0.438 0.101 N 0.295 0.092 0.243972157842 gnomAD-3.1.2 5.26E-05 None None None None N None 1.44921E-04 0 0 0 0 None 0 0 2.94E-05 0 0
Q/E 5957 Ig-43 39 rs201672969 0.0771 0.438 0.101 N 0.295 0.092 0.243972157842 gnomAD-4.0.0 5.76398E-05 None None None None N None 1.20228E-04 0 None 0 0 None 0 0 6.95092E-05 0 3.20318E-05
Q/H 5957 Ig-43 39 rs181067357 0.1362 -0.337 0.794 N 0.307 0.333 0.290590437066 gnomAD-2.1.1 2.25512E-04 None None None None N None 0 0 None 1.54949E-03 0 None 9.81E-05 None 0 3.06382E-04 7.02642E-04
Q/H 5957 Ig-43 39 rs181067357 0.1362 -0.337 0.794 N 0.307 0.333 0.290590437066 gnomAD-3.1.2 1.97202E-04 None None None None N None 0 0 0 1.44009E-03 0 None 1.88537E-04 0 3.38215E-04 0 0
Q/H 5957 Ig-43 39 rs181067357 0.1362 -0.337 0.794 N 0.307 0.333 0.290590437066 gnomAD-4.0.0 1.87767E-04 None None None None N None 1.33273E-05 0 None 1.31775E-03 0 None 1.87494E-04 0 1.97508E-04 4.39155E-05 2.241E-04
K/E 6050 Ig-44 39 None 0.1209 None 0.811 N 0.483 0.23 0.416454006429 gnomAD-4.0.0 6.8442E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99594E-07 0 0
K/Q 6050 Ig-44 39 rs2080195973 0.1038 None 0.211 N 0.248 0.128 0.340273420219 gnomAD-4.0.0 6.8442E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99594E-07 0 0
R/G 6237 Ig-46 39 None 0.2128 None 0.005 N 0.301 0.201 0.480574121323 gnomAD-4.0.0 1.59166E-06 None None None None N None 0 0 None 0 0 None 1.88239E-05 0 0 0 0
R/W 6237 Ig-46 39 rs750368911 0.2347 -0.279 0.828 N 0.277 0.409 0.450733807028 gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.67E-05 0
R/W 6237 Ig-46 39 rs750368911 0.2347 -0.279 0.828 N 0.277 0.409 0.450733807028 gnomAD-4.0.0 6.36663E-06 None None None None N None 0 0 None 0 0 None 0 0 1.1437E-05 0 0
K/E 6423 Ig-48 39 rs771317701 0.2252 0.511 0.013 N 0.239 0.24 0.323886383625 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.59E-05 None 0 None 0 0 0
K/E 6423 Ig-48 39 rs771317701 0.2252 0.511 0.013 N 0.239 0.24 0.323886383625 gnomAD-4.0.0 1.59238E-06 None None None None N None 0 0 None 0 2.77716E-05 None 0 0 0 0 0
K/I 6519 Ig-49 39 None 0.2001 None 0.772 N 0.343 0.423 0.650812743361 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
V/A 6612 Ig-50 39 None 0.0936 None 0.047 N 0.177 0.085 0.359151904892 gnomAD-4.0.0 6.84395E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99703E-07 0 0
V/E 6612 Ig-50 39 rs751909040 0.131 -0.254 0.351 N 0.399 0.213 0.63942624558 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
V/E 6612 Ig-50 39 rs751909040 0.131 -0.254 0.351 N 0.399 0.213 0.63942624558 gnomAD-4.0.0 1.36879E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.15974E-05 1.65722E-05
V/M 6612 Ig-50 39 None 0.078 None 0.017 N 0.171 0.048 0.216624796971 gnomAD-4.0.0 1.59229E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86069E-06 0 0
H/Q 6706 Ig-51 40 None 0.0774 None 0.002 N 0.145 0.092 0.0884992946249 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
R/Q 6799 Ig-52 39 rs780069933 0.1647 0.297 0.96 N 0.459 0.24 0.229264304666 gnomAD-2.1.1 8.06E-06 None None None None N None 0 2.91E-05 None 0 0 None 0 None 0 8.91E-06 0
R/Q 6799 Ig-52 39 rs780069933 0.1647 0.297 0.96 N 0.459 0.24 0.229264304666 gnomAD-4.0.0 2.73816E-05 None None None None N None 0 2.24075E-05 None 0 7.56888E-05 None 0 1.73671E-04 2.96917E-05 2.3204E-05 0
R/W 6799 Ig-52 39 rs751534449 0.3153 -0.285 1.0 N 0.515 0.445 0.410868550352 gnomAD-2.1.1 2.42E-05 None None None None N None 0 0 None 0 0 None 0 None 0 5.34E-05 0
R/W 6799 Ig-52 39 rs751534449 0.3153 -0.285 1.0 N 0.515 0.445 0.410868550352 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
R/W 6799 Ig-52 39 rs751534449 0.3153 -0.285 1.0 N 0.515 0.445 0.410868550352 gnomAD-4.0.0 2.29416E-05 None None None None N None 0 0 None 0 2.23254E-05 None 0 0 3.05239E-05 0 0
E/K 6892 Ig-53 39 rs185833299 0.1635 -0.048 0.978 N 0.417 0.341 None gnomAD-2.1.1 2.14E-05 None None None None N None 2.06954E-04 2.84E-05 None 0 0 None 0 None 0 0 0
E/K 6892 Ig-53 39 rs185833299 0.1635 -0.048 0.978 N 0.417 0.341 None gnomAD-3.1.2 3.29E-05 None None None None N None 9.65E-05 6.55E-05 0 0 0 None 0 0 0 0 0
E/K 6892 Ig-53 39 rs185833299 0.1635 -0.048 0.978 N 0.417 0.341 None 1000 genomes 1.99681E-04 None None None None N None 0 1.4E-03 None None 0 0 None None None 0 None
E/K 6892 Ig-53 39 rs185833299 0.1635 -0.048 0.978 N 0.417 0.341 None gnomAD-4.0.0 7.43852E-06 None None None None N None 1.33344E-04 1.66811E-05 None 0 0 None 0 0 0 0 1.60108E-05
K/N 6986 Ig-54 39 rs779709860 0.2085 0.158 0.994 N 0.433 0.319 0.26547132957 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 0 1.65948E-04
K/N 6986 Ig-54 39 rs779709860 0.2085 0.158 0.994 N 0.433 0.319 0.26547132957 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
K/N 6986 Ig-54 39 rs779709860 0.2085 0.158 0.994 N 0.433 0.319 0.26547132957 gnomAD-4.0.0 6.84348E-07 None None None None N None 0 2.23754E-05 None 0 0 None 0 0 0 0 0
R/G 7175 Ig-56 39 rs373166589 0.1007 -0.131 0.042 N 0.289 0.319 None gnomAD-2.1.1 8.06E-06 None None None None N None 0 2.91E-05 None 0 0 None 0 None 0 8.9E-06 0
R/G 7175 Ig-56 39 rs373166589 0.1007 -0.131 0.042 N 0.289 0.319 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/G 7175 Ig-56 39 rs373166589 0.1007 -0.131 0.042 N 0.289 0.319 None gnomAD-4.0.0 4.33886E-06 None None None None N None 0 1.66834E-05 None 0 0 None 0 0 4.23871E-06 0 1.60205E-05
R/S 7175 Ig-56 39 None 0.17 None None N 0.169 0.315 0.0401082797425 gnomAD-4.0.0 1.5922E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85976E-06 0 0
R/T 7175 Ig-56 39 rs1578045796 0.0869 None 0.042 N 0.308 0.283 0.307966526162 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/T 7175 Ig-56 39 rs1578045796 0.0869 None 0.042 N 0.308 0.283 0.307966526162 gnomAD-4.0.0 6.57263E-06 None None None None N None 2.4115E-05 0 None 0 0 None 0 0 0 0 0
T/A 7361 Ig-58 39 None 0.0929 None 0.046 N 0.211 0.111 0.168933306366 gnomAD-4.0.0 3.60098E-06 None None None None N None 0 0 None 0 0 None 0 0 3.93751E-06 0 0
T/N 7361 Ig-58 39 rs1425492375 0.1437 0.018 0.623 N 0.267 0.204 0.350524144436 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
T/N 7361 Ig-58 39 rs1425492375 0.1437 0.018 0.623 N 0.267 0.204 0.350524144436 gnomAD-4.0.0 4.7767E-06 None None None None N None 0 0 None 0 2.77454E-05 None 0 0 2.85972E-06 1.43328E-05 0
V/I 7457 Ig-59 39 rs1365674340 0.0686 -0.066 0.309 N 0.347 0.139 0.43126412278 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
V/I 7457 Ig-59 39 rs1365674340 0.0686 -0.066 0.309 N 0.347 0.139 0.43126412278 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
V/I 7457 Ig-59 39 rs1365674340 0.0686 -0.066 0.309 N 0.347 0.139 0.43126412278 gnomAD-4.0.0 2.56347E-06 None None None None N None 1.69239E-05 0 None 0 0 None 0 0 2.3944E-06 0 0
S/I 7647 Ig-61 40 None 0.0884 None 0.655 N 0.439 0.245 0.37953744168 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
S/R 7647 Ig-61 40 rs544355195 0.1585 -0.096 0.408 N 0.393 0.214 0.0666544352282 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
S/R 7647 Ig-61 40 rs544355195 0.1585 -0.096 0.408 N 0.393 0.214 0.0666544352282 gnomAD-3.1.2 1.97E-05 None None None None N None 0 0 0 0 0 None 0 0 0 6.20861E-04 0
S/R 7647 Ig-61 40 rs544355195 0.1585 -0.096 0.408 N 0.393 0.214 0.0666544352282 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 0 None None None 1E-03 None
S/R 7647 Ig-61 40 rs544355195 0.1585 -0.096 0.408 N 0.393 0.214 0.0666544352282 gnomAD-4.0.0 3.09964E-06 None None None None N None 0 0 None 0 0 None 0 0 0 5.49402E-05 0
G/D 7833 Ig-63 39 rs2154300464 0.2234 None 0.002 N 0.328 0.336 0.225215365344 gnomAD-4.0.0 3.71797E-06 None None None None N None 0 1.6665E-05 None 0 0 None 0 0 4.23824E-06 0 0
G/R 7833 Ig-63 39 rs779083208 0.3743 -0.61 0.826 D 0.519 0.362 0.619976913611 gnomAD-2.1.1 8.57E-05 None None None None N None 0 0 None 0 0 None 0 None 9.19265E-04 7.82E-06 0
G/R 7833 Ig-63 39 rs779083208 0.3743 -0.61 0.826 D 0.519 0.362 0.619976913611 gnomAD-3.1.2 3.29E-05 None None None None N None 0 0 0 0 0 None 4.70898E-04 0 0 0 0
G/R 7833 Ig-63 39 rs779083208 0.3743 -0.61 0.826 D 0.519 0.362 0.619976913611 gnomAD-4.0.0 2.4169E-05 None None None None N None 0 0 None 0 0 None 5.78035E-04 0 8.47657E-07 0 1.60118E-05
R/K 7927 Ig-64 39 None 0.0685 None None N 0.189 0.106 0.101711395817 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
N/K 8023 Ig-65 39 rs757931022 0.0872 0.34 0.007 N 0.155 0.152 0.0611884634855 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 8023 Ig-65 39 rs757931022 0.0872 0.34 0.007 N 0.155 0.152 0.0611884634855 gnomAD-4.0.0 2.73875E-06 None None None None N None 0 0 None 0 0 None 0 0 3.601E-06 0 0
N/S 8023 Ig-65 39 rs779375050 0.0679 -0.124 0.007 N 0.137 0.074 0.130388298395 gnomAD-2.1.1 8.04E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 8.88E-06 0
N/S 8023 Ig-65 39 rs779375050 0.0679 -0.124 0.007 N 0.137 0.074 0.130388298395 gnomAD-4.0.0 1.59124E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43275E-05 0
T/A 8302 Ig-68 39 None 0.1054 None 0.005 N 0.216 0.145 0.141422826196 gnomAD-4.0.0 6.84604E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15942E-05 0
T/K 8302 Ig-68 39 rs549604128 0.2482 -0.452 0.011 N 0.245 0.275 0.272205846399 gnomAD-2.1.1 8.94E-05 None None None None N None 0 0 None 0 1.1784E-03 None 6.54E-05 None 0 0 0
T/K 8302 Ig-68 39 rs549604128 0.2482 -0.452 0.011 N 0.245 0.275 0.272205846399 gnomAD-3.1.2 5.26E-05 None None None None N None 0 0 0 0 1.54321E-03 None 0 0 0 0 0
T/K 8302 Ig-68 39 rs549604128 0.2482 -0.452 0.011 N 0.245 0.275 0.272205846399 1000 genomes 3.99361E-04 None None None None N None 0 0 None None 2E-03 0 None None None 0 None
T/K 8302 Ig-68 39 rs549604128 0.2482 -0.452 0.011 N 0.245 0.275 0.272205846399 gnomAD-4.0.0 2.23197E-05 None None None None N None 0 0 None 0 6.24108E-04 None 0 1.65125E-04 0 6.58848E-05 1.60092E-05
T/S 8302 Ig-68 39 None 0.144 None None N 0.148 0.064 0.12205267543 gnomAD-4.0.0 6.84604E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99517E-07 0 0
V/A 8398 Ig-69 39 None 0.1369 None None N 0.13 0.046 0.246215685461 gnomAD-4.0.0 1.59207E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85951E-06 0 0
V/I 8398 Ig-69 39 None 0.0696 0.04 0.055 N 0.252 0.127 0.269111216191 gnomAD-2.1.1 2.15E-05 None None None None N None 0 0 None 0 0 None 1.63763E-04 None 0 0 1.41163E-04
V/I 8398 Ig-69 39 None 0.0696 0.04 0.055 N 0.252 0.127 0.269111216191 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
V/I 8398 Ig-69 39 None 0.0696 0.04 0.055 N 0.252 0.127 0.269111216191 gnomAD-4.0.0 4.9587E-06 None None None None N None 0 0 None 0 0 None 0 0 8.47732E-07 5.49221E-05 3.20338E-05
V/L 8398 Ig-69 39 rs535933745 0.132 0.009 0.012 N 0.255 0.096 0.238705975628 gnomAD-2.1.1 1.07E-05 None None None None N None 0 0 None 0 1.54258E-04 None 0 None 0 0 0
V/L 8398 Ig-69 39 rs535933745 0.132 0.009 0.012 N 0.255 0.096 0.238705975628 gnomAD-3.1.2 1.31E-05 None None None None N None 0 0 0 0 3.85356E-04 None 0 0 0 0 0
V/L 8398 Ig-69 39 rs535933745 0.132 0.009 0.012 N 0.255 0.096 0.238705975628 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 1E-03 0 None None None 0 None
V/L 8398 Ig-69 39 rs535933745 0.132 0.009 0.012 N 0.255 0.096 0.238705975628 gnomAD-4.0.0 1.31378E-05 None None None None N None 0 0 None 0 3.8625E-04 None 0 0 0 0 0
R/Q 8494 Ig-70 39 rs201418615 0.1624 0.205 0.98 N 0.308 0.126 None gnomAD-2.1.1 2.03323E-04 None None None None N None 2.23141E-03 2.83E-05 None 0 0 None 3.27E-05 None 0 7.8E-06 0
R/Q 8494 Ig-70 39 rs201418615 0.1624 0.205 0.98 N 0.308 0.126 None gnomAD-3.1.2 5.38921E-04 None None None None N None 1.80932E-03 1.30959E-04 0 0 0 None 0 0 7.35E-05 0 0
R/Q 8494 Ig-70 39 rs201418615 0.1624 0.205 0.98 N 0.308 0.126 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 8494 Ig-70 39 rs201418615 0.1624 0.205 0.98 N 0.308 0.126 None gnomAD-4.0.0 1.13405E-04 None None None None N None 1.94604E-03 6.66556E-05 None 0 0 None 0 0 2.20397E-05 2.19616E-05 8.00384E-05
G/E 8774 Ig-73 39 None 0.1261 None 0.007 N 0.293 0.384 0.32053947749 gnomAD-4.0.0 6.84279E-07 None None None None N None 0 0 None 0 0 None 0 0 0 0 1.65684E-05
K/E 8868 Ig-74 39 None 0.111 None 0.425 N 0.285 0.139 0.348101942276 gnomAD-4.0.0 1.36857E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79905E-06 0 0
K/N 8868 Ig-74 39 None 0.2335 None 0.002 N 0.207 0.103 0.0954503805726 gnomAD-4.0.0 1.59185E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.4332E-05 0
K/Q 8868 Ig-74 39 rs776511625 0.0959 0.34 0.642 N 0.33 0.15 0.239901079897 gnomAD-2.1.1 4.02E-05 None None None None N None 0 2.03524E-04 None 0 0 None 0 None 0 2.67E-05 0
K/Q 8868 Ig-74 39 rs776511625 0.0959 0.34 0.642 N 0.33 0.15 0.239901079897 gnomAD-3.1.2 3.29E-05 None None None None N None 0 1.96438E-04 0 0 0 None 0 0 2.94E-05 0 0
K/Q 8868 Ig-74 39 rs776511625 0.0959 0.34 0.642 N 0.33 0.15 0.239901079897 gnomAD-4.0.0 2.41707E-05 None None None None N None 0 2.3352E-04 None 0 0 None 0 0 1.94961E-05 0 3.20307E-05
N/K 8964 Ig-75 39 None 0.0938 None 0.001 N 0.139 0.082 0.0297737177859 gnomAD-4.0.0 7.53702E-06 None None None None N None 0 0 None 0 0 None 0 0 9.90827E-06 0 0
S/C 9057 Ig-76 39 None 0.1229 None 0.295 N 0.35 0.377 0.450831855234 gnomAD-4.0.0 6.84241E-07 None None None None N None 0 0 None 0 2.52016E-05 None 0 0 0 0 0
S/G 9057 Ig-76 39 rs1472858886 0.0843 None 0.024 N 0.262 0.162 0.208816687407 gnomAD-4.0.0 4.78968E-06 None None None None N None 0 0 None 0 0 None 0 0 6.29633E-06 0 0
S/N 9057 Ig-76 39 rs768427223 0.0832 0.285 0.055 N 0.234 0.086 0.143124449307 gnomAD-2.1.1 3.62E-05 None None None None N None 0 0 None 0 0 None 2.9431E-04 None 0 0 0
S/N 9057 Ig-76 39 rs768427223 0.0832 0.285 0.055 N 0.234 0.086 0.143124449307 gnomAD-3.1.2 1.31E-05 None None None None N None 0 0 0 0 0 None 0 0 0 4.13565E-04 0
S/N 9057 Ig-76 39 rs768427223 0.0832 0.285 0.055 N 0.234 0.086 0.143124449307 gnomAD-4.0.0 1.17743E-05 None None None None N None 0 0 None 0 0 None 0 0 0 2.08608E-04 0
S/R 9057 Ig-76 39 rs1472858886 0.1567 0.274 0.029 N 0.367 0.107 0.104622674875 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.9E-06 0
S/R 9057 Ig-76 39 rs1472858886 0.1567 0.274 0.029 N 0.367 0.107 0.104622674875 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
S/R 9057 Ig-76 39 rs1472858886 0.1567 0.274 0.029 N 0.367 0.107 0.104622674875 gnomAD-4.0.0 1.8591E-06 None None None None N None 1.33461E-05 0 None 0 0 None 0 0 1.69523E-06 0 0
S/T 9057 Ig-76 39 rs768427223 0.064 None None N 0.133 0.095 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
S/T 9057 Ig-76 39 rs768427223 0.064 None None N 0.133 0.095 None gnomAD-4.0.0 6.57022E-06 None None None None N None 2.41208E-05 0 None 0 0 None 0 0 0 0 0
I/M 9150 Ig-77 39 rs1553891488 0.0703 None 0.304 N 0.276 0.037 0.300110245524 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/M 9150 Ig-77 39 rs1553891488 0.0703 None 0.304 N 0.276 0.037 0.300110245524 gnomAD-4.0.0 6.57367E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47059E-05 0 0
I/V 9150 Ig-77 39 None 0.07 None None N 0.141 0.071 0.17948927462 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
T/P 9243 Ig-78 39 None 0.5671 None 0.979 D 0.374 0.354 0.487912462561 gnomAD-4.0.0 6.84215E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99475E-07 0 0
T/S 9243 Ig-78 39 None 0.1367 None 0.472 N 0.297 0.085 0.190952846119 gnomAD-4.0.0 6.84215E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99475E-07 0 0
K/R 9339 Ig-79 39 rs878989601 0.0813 None None None 0.237 0.093 0.104622674875 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
K/R 9339 Ig-79 39 rs878989601 0.0813 None None None 0.237 0.093 0.104622674875 gnomAD-4.0.0 6.57117E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47011E-05 0 0
R/G 9435 Ig-80 39 rs1355846496 0.2252 -0.825 0.081 None 0.302 0.211 0.42526943336 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
R/G 9435 Ig-80 39 rs1355846496 0.2252 -0.825 0.081 None 0.302 0.211 0.42526943336 gnomAD-4.0.0 1.59099E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43271E-05 0
I/M 9532 Ig-81 40 rs749485243 0.0648 -0.289 None None 0.185 0.06 0.0666544352282 gnomAD-2.1.1 4.01E-06 None None None None I None 0 2.9E-05 None 0 0 None 0 None 0 0 0
I/M 9532 Ig-81 40 rs749485243 0.0648 -0.289 None None 0.185 0.06 0.0666544352282 gnomAD-4.0.0 6.84176E-07 None None None None I None 0 2.23614E-05 None 0 0 None 0 0 0 0 0
I/T 9532 Ig-81 40 None 0.0686 None None None 0.209 0.178 0.329540904979 gnomAD-4.0.0 2.05252E-06 None None None None I None 0 0 None 0 2.51902E-05 None 0 0 1.79888E-06 0 0
I/V 9532 Ig-81 40 rs770782767 0.0596 -0.464 None None 0.177 0.133 0.0884992946249 gnomAD-2.1.1 2.85E-05 None None None None I None 4.13E-05 0 None 0 0 None 0 None 0 5.45E-05 0
I/V 9532 Ig-81 40 rs770782767 0.0596 -0.464 None None 0.177 0.133 0.0884992946249 gnomAD-3.1.2 1.97E-05 None None None None I None 0 0 0 0 0 None 0 0 4.41E-05 0 0
I/V 9532 Ig-81 40 rs770782767 0.0596 -0.464 None None 0.177 0.133 0.0884992946249 gnomAD-4.0.0 4.70932E-05 None None None None I None 1.33469E-05 0 None 0 0 None 0 0 6.18732E-05 0 3.20195E-05
R/G 9628 Ig-82 39 None 0.4612 None 0.549 None 0.416 0.21 0.43848807779 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
R/W 9628 Ig-82 39 rs1286102161 0.3369 None 0.99 None 0.505 0.489 0.466486631293 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/W 9628 Ig-82 39 rs1286102161 0.3369 None 0.99 None 0.505 0.489 0.466486631293 gnomAD-4.0.0 6.56927E-06 None None None None N None 2.41173E-05 0 None 0 0 None 0 0 0 0 0
E/Q 9939 Ig-84 40 rs727503638 0.1046 0.144 0.003 None 0.136 0.149 0.216624796971 gnomAD-2.1.1 1.22E-05 None None None None N None 0 0 None 0 0 None 9.91E-05 None 0 0 0
E/Q 9939 Ig-84 40 rs727503638 0.1046 0.144 0.003 None 0.136 0.149 0.216624796971 gnomAD-4.0.0 6.84983E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.16187E-04 0
R/T 10026 Ig-85 38 rs1327825232 0.3106 None 0.324 None 0.34 0.144 0.376745185316 gnomAD-4.0.0 6.15722E-06 None None None None N None 0 0 None 0 0 None 0 0 8.09454E-06 0 0
T/A 10115 Ig-86 38 rs769099418 0.1137 -0.55 0.201 None 0.314 0.127 0.201204373187 gnomAD-2.1.1 1.78E-05 None None None None N None 1.6533E-04 0 None 0 0 None 0 None 0 7.78E-06 0
T/A 10115 Ig-86 38 rs769099418 0.1137 -0.55 0.201 None 0.314 0.127 0.201204373187 gnomAD-3.1.2 1.97E-05 None None None None N None 7.24E-05 0 0 0 0 None 0 0 0 0 0
T/A 10115 Ig-86 38 rs769099418 0.1137 -0.55 0.201 None 0.314 0.127 0.201204373187 gnomAD-4.0.0 1.42514E-05 None None None None N None 5.3386E-05 0 None 0 0 None 0 0 1.61033E-05 0 0
T/K 10115 Ig-86 38 rs747337002 0.3142 -0.133 0.549 None 0.379 0.184 0.300110245524 gnomAD-2.1.1 4.01E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.85E-06 0
S/G 13724 Ig-87 41 None 0.1172 None 0.001 N 0.096 0.112 0.233785782151 gnomAD-4.0.0 6.84321E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99585E-07 0 0
D/N 13911 Ig-89 36 rs1209898521 0.2169 None 0.003 N 0.123 0.086 0.12205267543 gnomAD-4.0.0 6.93692E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.19523E-05 0
D/Y 13911 Ig-89 36 rs1209898521 0.5287 None 0.306 N 0.531 0.174 0.362361684037 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 1.94024E-04 None 0 0 0 0 0
D/Y 13911 Ig-89 36 rs1209898521 0.5287 None 0.306 N 0.531 0.174 0.362361684037 gnomAD-4.0.0 6.57774E-06 None None None None N None 0 0 None 0 1.94024E-04 None 0 0 0 0 0
E/K 14002 Ig-90 38 None 0.8321 None 0.91 N 0.463 0.231 0.180583059064 gnomAD-4.0.0 2.05374E-06 None None None None N None 0 0 None 0 0 None 0 0 1.7995E-06 0 1.65788E-05
A/G 14179 Ig-92 38 None 0.1243 None 0.012 N 0.313 0.085 0.0297737177859 gnomAD-4.0.0 4.79045E-06 None None None None N None 0 0 None 0 0 None 0 0 6.29738E-06 0 0
A/T 14179 Ig-92 38 rs780353399 0.0593 -0.441 None N 0.113 0.101 0.104622674875 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
A/T 14179 Ig-92 38 rs780353399 0.0593 -0.441 None N 0.113 0.101 0.104622674875 gnomAD-4.0.0 1.59201E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85989E-06 0 0
A/V 14179 Ig-92 38 None 0.0633 None None N 0.109 0.081 0.0482279557977 gnomAD-4.0.0 2.05305E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69888E-06 0 0
Q/R 14534 Ig-96 38 rs1431389358 0.1116 0.109 0.096 N 0.258 0.204 0.249502417897 gnomAD-2.1.1 4.13E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9.13E-06 0
Q/R 14534 Ig-96 38 rs1431389358 0.1116 0.109 0.096 N 0.258 0.204 0.249502417897 gnomAD-4.0.0 1.3722E-06 None None None None N None 0 0 None 0 0 None 0 0 1.80188E-06 0 0
K/R 14623 Ig-97 38 None 0.1018 None 0.012 N 0.281 0.123 0.482429249588 gnomAD-4.0.0 1.59244E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85958E-06 0 0
E/D 14712 Ig-98 38 rs377495241 0.1348 -0.255 0.009 N 0.205 0.083 0.136095386433 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
E/D 14712 Ig-98 38 rs377495241 0.1348 -0.255 0.009 N 0.205 0.083 0.136095386433 gnomAD-4.0.0 6.8455E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99798E-07 0 0
K/E 14801 Ig-99 37 rs1313794493 0.096 0.408 0.101 N 0.362 0.16 0.243398259712 gnomAD-2.1.1 3.19E-05 None None None None N None 1.14916E-04 0 None 0 0 None 0 None 0 0 0
K/E 14801 Ig-99 37 rs1313794493 0.096 0.408 0.101 N 0.362 0.16 0.243398259712 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
K/E 14801 Ig-99 37 rs1313794493 0.096 0.408 0.101 N 0.362 0.16 0.243398259712 gnomAD-4.0.0 6.57652E-06 None None None None N None 2.41301E-05 0 None 0 0 None 0 0 0 0 0
K/R 14801 Ig-99 37 None 0.0837 None 0.007 N 0.257 0.084 0.292787519742 gnomAD-4.0.0 3.18748E-06 None None None None N None 0 0 None 0 0 None 0 0 5.72502E-06 0 0
T/A 14890 Ig-100 38 rs2058757156 0.1008 None 0.244 N 0.233 0.138 0.158396225186 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 1.94401E-04 None 0 0 0 0 0
T/A 14890 Ig-100 38 rs2058757156 0.1008 None 0.244 N 0.233 0.138 0.158396225186 gnomAD-4.0.0 6.58068E-06 None None None None N None 0 0 None 0 1.94401E-04 None 0 0 0 0 0
T/I 14890 Ig-100 38 rs2154215014 0.1569 None 0.784 N 0.513 0.258 0.452737964553 gnomAD-3.1.2 6.59E-06 None None None None N None 0 0 0 0 0 None 0 0 0 2.07383E-04 0
T/I 14890 Ig-100 38 rs2154215014 0.1569 None 0.784 N 0.513 0.258 0.452737964553 gnomAD-4.0.0 6.5799E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.07555E-04 0
A/T 14979 Ig-101 38 None 0.0645 None 0.101 N 0.319 0.134 0.242244723065 gnomAD-4.0.0 6.86271E-07 None None None None N None 0 0 None 0 0 None 0 0 9.01372E-07 0 0
E/K 15068 Ig-102 38 rs2058292632 0.1097 None 0.565 N 0.499 0.252 0.384419519794 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
E/K 15068 Ig-102 38 rs2058292632 0.1097 None 0.565 N 0.499 0.252 0.384419519794 gnomAD-4.0.0 1.55046E-05 None None None None N None 4.01102E-05 0 None 0 0 None 0 0 1.86579E-05 0 0
E/A 15245 Ig-104 38 rs1310228213 0.2128 -0.69 0.998 N 0.622 0.576 0.469248961376 gnomAD-2.1.1 3.19E-05 None None None None N None 1.14916E-04 0 None 0 0 None 0 None 0 0 0
E/A 15245 Ig-104 38 rs1310228213 0.2128 -0.69 0.998 N 0.622 0.576 0.469248961376 gnomAD-3.1.2 1.97E-05 None None None None N None 4.83E-05 0 0 0 0 None 0 0 0 0 4.78927E-04
E/A 15245 Ig-104 38 rs1310228213 0.2128 -0.69 0.998 N 0.622 0.576 0.469248961376 gnomAD-4.0.0 1.97483E-05 None None None None N None 4.83022E-05 0 None 0 0 None 0 0 0 0 4.78927E-04
E/K 15245 Ig-104 38 rs774793155 0.1779 None 0.998 N 0.544 0.409 0.395143324098 gnomAD-4.0.0 1.59387E-06 None None None None N None 0 0 None 0 0 None 1.88537E-05 0 0 0 0
E/G 15339 Ig-105 38 None 0.2489 None 0.982 N 0.483 0.478 0.452928561435 gnomAD-4.0.0 1.59421E-06 None None None None N None 0 0 None 0 2.78257E-05 None 0 0 0 0 0
R/K 15428 Ig-106 38 rs2058065577 0.1204 None 0.997 N 0.588 0.32 0.509878532422 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
M/T 15517 Ig-107 38 rs1349699547 0.4723 0.44 0.801 N 0.377 0.418 0.763603987931 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
M/T 15517 Ig-107 38 rs1349699547 0.4723 0.44 0.801 N 0.377 0.418 0.763603987931 gnomAD-4.0.0 1.36942E-06 None None None None I None 0 0 None 0 0 None 0 0 1.80012E-06 0 0
M/V 15517 Ig-107 38 rs751464964 0.1911 0.138 0.267 N 0.285 0.273 0.593685261966 gnomAD-2.1.1 1.61E-05 None None None None I None 0 0 None 0 0 None 1.30753E-04 None 0 0 0
M/V 15517 Ig-107 38 rs751464964 0.1911 0.138 0.267 N 0.285 0.273 0.593685261966 gnomAD-4.0.0 9.56376E-06 None None None None I None 0 0 None 0 0 None 0 0 0 8.60215E-05 0
K/T 16001 Ig-109 34 None 0.0919 None None N 0.197 0.186 0.273938319068 gnomAD-4.0.0 6.8462E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99866E-07 0 0
M/I 16297 Ig-110 36 rs754110019 0.2262 0.217 None N 0.243 0.136 0.294918367191 gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 5.65E-05 None 0 None 0 1.79E-05 0
M/I 16297 Ig-110 36 rs754110019 0.2262 0.217 None N 0.243 0.136 0.294918367191 gnomAD-4.0.0 5.47771E-06 None None None None N None 0 0 None 0 2.53318E-05 None 0 0 6.29925E-06 0 0
M/R 16297 Ig-110 36 rs1488829244 0.2036 0.943 0.001 N 0.333 0.148 0.141422826196 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
M/R 16297 Ig-110 36 rs1488829244 0.2036 0.943 0.001 N 0.333 0.148 0.141422826196 gnomAD-4.0.0 1.36942E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79978E-06 0 0
M/T 16297 Ig-110 36 None 0.1589 None None N 0.182 0.117 0.173771789658 gnomAD-4.0.0 9.58597E-06 None None None None N None 0 0 None 0 0 None 0 0 1.25984E-05 0 0
M/V 16297 Ig-110 36 None 0.0981 None None N 0.122 0.198 0.355242300401 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/R 17711 Ig-113 35 rs773642381 0.3519 -0.284 0.018 N 0.395 0.237 0.387202362727 gnomAD-2.1.1 7.16E-06 None None None None N None 4.14E-05 0 None 0 0 None 0 None 0 7.85E-06 0
G/R 17711 Ig-113 35 rs773642381 0.3519 -0.284 0.018 N 0.395 0.237 0.387202362727 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/R 17711 Ig-113 35 rs773642381 0.3519 -0.284 0.018 N 0.395 0.237 0.387202362727 gnomAD-4.0.0 3.09969E-06 None None None None N None 1.33593E-05 0 None 0 0 None 0 0 3.39165E-06 0 0
K/N 18417 Ig-115 36 rs1282114647 0.2831 -0.196 0.968 N 0.51 0.28 0.289098819767 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
K/N 18417 Ig-115 36 rs1282114647 0.2831 -0.196 0.968 N 0.51 0.28 0.289098819767 gnomAD-3.1.2 6.58E-06 None None None None N None 2.42E-05 0 0 0 0 None 0 0 0 0 0
K/N 18417 Ig-115 36 rs1282114647 0.2831 -0.196 0.968 N 0.51 0.28 0.289098819767 gnomAD-4.0.0 3.84873E-06 None None None None N None 5.08406E-05 0 None 0 0 None 0 0 0 0 0
R/K 19131 Ig-117 37 None 0.064 None None N 0.148 0.11 0.130388298395 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
A/D 19425 Ig-118 35 None 0.1214 -0.195 0.029 N 0.424 0.137 0.260735089382 gnomAD-2.1.1 1.61E-05 None None None None N None 0 0 None 0 0 None 0 None 0 3.56E-05 0
A/D 19425 Ig-118 35 None 0.1214 -0.195 0.029 N 0.424 0.137 0.260735089382 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
A/D 19425 Ig-118 35 None 0.1214 -0.195 0.029 N 0.424 0.137 0.260735089382 gnomAD-4.0.0 7.43805E-06 None None None None N None 0 1.66828E-05 None 0 0 None 0 1.64528E-04 6.78167E-06 0 3.20307E-05
A/G 19425 Ig-118 35 rs727504525 0.1117 None 0.024 N 0.301 0.081 0.191931220699 gnomAD-4.0.0 8.21209E-06 None None None None N None 0 0 None 0 2.52742E-05 None 0 0 9.89508E-06 0 0
A/V 19425 Ig-118 35 rs727504525 0.0729 0.061 None N 0.185 0.08 0.18995819373 gnomAD-2.1.1 1.21E-05 None None None None N None 6.46E-05 5.81E-05 None 0 0 None 0 None 0 0 0
A/V 19425 Ig-118 35 rs727504525 0.0729 0.061 None N 0.185 0.08 0.18995819373 gnomAD-3.1.2 1.97E-05 None None None None N None 0 1.9667E-04 0 0 0 None 0 0 0 0 0
A/V 19425 Ig-118 35 rs727504525 0.0729 0.061 None N 0.185 0.08 0.18995819373 gnomAD-4.0.0 4.9587E-06 None None None None N None 4.00481E-05 8.3414E-05 None 0 0 None 0 0 0 0 0
R/T 19825 Ig-119 36 rs376465623 0.1059 0.266 0.081 N 0.309 0.103 None gnomAD-2.1.1 6.08E-05 None None None None N None 4.13E-05 0 None 0 0 None 0 None 4E-05 1.09598E-04 1.40568E-04
R/T 19825 Ig-119 36 rs376465623 0.1059 0.266 0.081 N 0.309 0.103 None gnomAD-3.1.2 5.26E-05 None None None None N None 7.24E-05 0 0 0 0 None 0 0 7.36E-05 0 0
R/T 19825 Ig-119 36 rs376465623 0.1059 0.266 0.081 N 0.309 0.103 None gnomAD-4.0.0 1.02269E-04 None None None None N None 5.34102E-05 0 None 0 0 None 3.12402E-05 0 1.2801E-04 0 1.28115E-04
S/R 20117 Ig-120 38 rs527297991 0.152 None 0.055 N 0.403 0.141 0.289098819767 gnomAD-4.0.0 6.84563E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99912E-07 0 0
K/Q 20515 Ig-121 37 None 0.1111 None 0.801 N 0.357 0.228 0.225215365344 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
T/I 20810 Ig-122 42 None 0.1597 None 0.81 N 0.652 0.148 0.346768085243 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
I/M 21213 Ig-123 37 None 0.0953 None 0.81 N 0.411 0.107 0.504541157375 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
I/T 21213 Ig-123 37 None 0.1446 None 0.549 N 0.359 0.281 0.687538048876 gnomAD-4.0.0 1.59312E-06 None None None None I None 0 0 None 0 0 None 0 0 2.86076E-06 0 0
I/V 21213 Ig-123 37 rs2049329163 0.0771 None 0.007 N 0.204 0.063 0.485776496936 gnomAD-3.1.2 6.58E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
I/V 21213 Ig-123 37 rs2049329163 0.0771 None 0.007 N 0.204 0.063 0.485776496936 gnomAD-4.0.0 6.57834E-06 None None None None I None 0 0 None 0 0 None 0 0 1.47124E-05 0 0
D/N 21505 Ig-124 37 None 0.0738 None 0.324 N 0.318 0.194 0.225215365344 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
T/A 21902 Ig-125 37 None 0.0647 None None N 0.109 0.129 0.152612264143 gnomAD-4.0.0 6.85218E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.16268E-05 0
V/I 22300 Ig-126 36 rs200343420 0.0843 -0.093 0.002 N 0.226 0.059 None gnomAD-2.1.1 3.75668E-04 None None None None I None 3.68164E-03 3.96646E-04 None 0 0 None 3.27E-05 None 0 7.83E-06 0
V/I 22300 Ig-126 36 rs200343420 0.0843 -0.093 0.002 N 0.226 0.059 None gnomAD-3.1.2 1.00638E-03 None None None None I None 3.40432E-03 6.55222E-04 0 0 0 None 0 0 0 0 9.57854E-04
V/I 22300 Ig-126 36 rs200343420 0.0843 -0.093 0.002 N 0.226 0.059 None 1000 genomes 3.99361E-04 None None None None I None 1.5E-03 0 None None 0 0 None None None 0 None
V/I 22300 Ig-126 36 rs200343420 0.0843 -0.093 0.002 N 0.226 0.059 None gnomAD-4.0.0 1.81648E-04 None None None None I None 3.40127E-03 4.16931E-04 None 0 0 None 0 0 8.47897E-07 3.29475E-05 1.44185E-04
D/V 22589 Ig-127 30 None 0.0739 None 0.022 N 0.255 0.318 0.48300943003 gnomAD-4.0.0 6.00161E-06 None None None None N None 0 0 None 0 0 None 0 0 6.56251E-06 0 0
I/M 23383 Ig-129 39 None 0.0753 None 0.171 N 0.244 0.043 0.232513804876 gnomAD-4.0.0 1.59681E-06 None None None None I None 0 0 None 0 0 None 0 0 0 0 3.03085E-05
I/N 23383 Ig-129 39 rs1197503879 0.1158 None 0.055 N 0.441 0.163 0.66259775642 gnomAD-3.1.2 6.58E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
I/N 23383 Ig-129 39 rs1197503879 0.1158 None 0.055 N 0.441 0.163 0.66259775642 gnomAD-4.0.0 1.24111E-06 None None None None I None 0 0 None 0 0 None 0 0 1.69767E-06 0 0
I/T 23383 Ig-129 39 None 0.0968 None None N 0.142 0.142 0.459282285925 gnomAD-4.0.0 6.85202E-07 None None None None I None 0 0 None 0 0 None 0 0 9.00817E-07 0 0
I/V 23383 Ig-129 39 rs773301754 0.0562 -0.157 None N 0.142 0.052 0.130388298395 gnomAD-2.1.1 8.05E-06 None None None None I None 0 5.8E-05 None 0 0 None 0 None 0 0 0
I/V 23383 Ig-129 39 rs773301754 0.0562 -0.157 None N 0.142 0.052 0.130388298395 gnomAD-4.0.0 3.19286E-06 None None None None I None 0 4.57624E-05 None 0 0 None 0 0 0 0 0
K/E 24068 Ig-131 40 rs766736138 0.121 0.488 0.999 N 0.678 0.285 0.478828542108 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
K/E 24068 Ig-131 40 rs766736138 0.121 0.488 0.999 N 0.678 0.285 0.478828542108 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
K/E 24068 Ig-131 40 rs766736138 0.121 0.488 0.999 N 0.678 0.285 0.478828542108 gnomAD-4.0.0 3.09964E-06 None None None None N None 0 3.33489E-05 None 0 0 None 0 0 2.54352E-06 0 0
V/A 24754 Ig-133 39 rs12616029 0.1011 -0.829 0.012 N 0.227 0.1 None gnomAD-2.1.1 8.05E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.78E-05 0
V/A 24754 Ig-133 39 rs12616029 0.1011 -0.829 0.012 N 0.227 0.1 None gnomAD-4.0.0 9.55107E-06 None None None None N None 0 0 None 0 0 None 0 0 1.71567E-05 0 0
V/I 24754 Ig-133 39 None 0.0633 None None N 0.175 0.074 0.202949470691 gnomAD-4.0.0 1.5919E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85954E-06 0 0
Q/E 25150 Ig-134 40 rs1421628949 0.0718 0.503 None N 0.117 0.092 0.225902525712 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
Q/E 25150 Ig-134 40 rs1421628949 0.0718 0.503 None N 0.117 0.092 0.225902525712 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
Q/E 25150 Ig-134 40 rs1421628949 0.0718 0.503 None N 0.117 0.092 0.225902525712 gnomAD-4.0.0 6.4084E-06 None None None None N None 0 1.69555E-05 None 0 0 None 0 0 9.57657E-06 0 0
Q/P 25150 Ig-134 40 None 0.3804 None 0.106 N 0.36 0.277 0.300110245524 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
Q/R 25150 Ig-134 40 rs1264505015 0.0711 None None N 0.142 0.126 0.15556083564 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 0 0 4.78011E-04
Q/R 25150 Ig-134 40 rs1264505015 0.0711 None None N 0.142 0.126 0.15556083564 gnomAD-4.0.0 6.57307E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 4.78011E-04
G/S 25549 Ig-135 36 rs181166140 0.0965 -0.263 0.997 D 0.623 0.308 None gnomAD-2.1.1 3.29308E-04 None None None None N None 0 2.58215E-03 None 0 0 None 0 None 0 7.83E-06 0
G/S 25549 Ig-135 36 rs181166140 0.0965 -0.263 0.997 D 0.623 0.308 None gnomAD-3.1.2 1.13751E-03 None None None None N None 2.41E-05 1.12116E-02 0 0 0 None 0 0 1.47E-05 0 0
G/S 25549 Ig-135 36 rs181166140 0.0965 -0.263 0.997 D 0.623 0.308 None 1000 genomes 7.98722E-04 None None None None N None 0 5.8E-03 None None 0 0 None None None 0 None
G/S 25549 Ig-135 36 rs181166140 0.0965 -0.263 0.997 D 0.623 0.308 None gnomAD-4.0.0 1.79821E-04 None None None None N None 1.33316E-05 4.57048E-03 None 0 0 None 0 0 6.7848E-06 0 1.12129E-04
G/R 26631 Ig-138 38 None 0.3336 None 0.056 N 0.352 0.309 0.451882325854 gnomAD-4.0.0 1.59145E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85868E-06 0 0
G/S 26631 Ig-138 38 rs1705788431 0.1197 None 0.805 N 0.445 0.207 0.200317383148 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 0 0 4.78469E-04
G/S 26631 Ig-138 38 rs1705788431 0.1197 None 0.805 N 0.445 0.207 0.200317383148 gnomAD-4.0.0 2.56255E-06 None None None None N None 0 0 None 0 0 None 0 0 2.39339E-06 0 2.84527E-05
E/K 26918 Ig-139 39 None 0.0746 None 0.166 N 0.28 0.186 0.283371740733 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/D 27714 Ig-141 39 None 0.2971 None 0.935 N 0.431 0.309 0.316494231283 gnomAD-4.0.0 2.40064E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.21507E-04 0
Q/K 28001 Ig-142 39 None 0.0835 None 0.042 N 0.223 0.106 0.239901079897 gnomAD-4.0.0 1.59282E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43414E-05 0
I/T 28396 Ig-143 39 rs371320129 0.0774 -0.281 None N 0.129 0.116 None gnomAD-2.1.1 8.05E-06 None None None None N None 0 0 None 0 5.58E-05 None 0 None 0 8.9E-06 0
I/T 28396 Ig-143 39 rs371320129 0.0774 -0.281 None N 0.129 0.116 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
I/T 28396 Ig-143 39 rs371320129 0.0774 -0.281 None N 0.129 0.116 None gnomAD-4.0.0 1.85915E-06 None None None None N None 0 0 None 0 0 None 0 0 2.54279E-06 0 0
I/V 28396 Ig-143 39 rs1703421976 0.0643 None None N 0.119 0.143 0.288727942641 gnomAD-4.0.0 1.59128E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85804E-06 0 0
T/A 28793 Ig-144 39 rs727505234 0.0697 None 0.201 N 0.26 0.131 0.152612264143 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
T/A 28793 Ig-144 39 rs727505234 0.0697 None 0.201 N 0.26 0.131 0.152612264143 gnomAD-4.0.0 5.62684E-06 None None None None N None 0 0 None 0 0 None 0 0 6.82354E-06 0 1.61755E-05
T/S 28793 Ig-144 39 None 0.0944 None 0.004 N 0.215 0.101 0.195762928549 gnomAD-4.0.0 2.07271E-06 None None None None N None 0 0 None 0 0 None 0 0 2.71647E-06 0 0
V/F 29083 Ig-145 39 rs139099170 0.0881 -0.62 0.427 N 0.373 0.107 None 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
V/F 29083 Ig-145 39 rs139099170 0.0881 -0.62 0.427 N 0.373 0.107 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
V/F 29083 Ig-145 39 rs139099170 0.0881 -0.62 0.427 N 0.373 0.107 None 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 1E-03 None None None 0 None
V/F 29083 Ig-145 39 rs139099170 0.0881 -0.62 0.427 N 0.373 0.107 None gnomAD-4.0.0 6.56737E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47007E-05 0 0
V/I 29083 Ig-145 39 rs139099170 0.0573 0.046 0.001 N 0.211 0.084 0.339316883193 gnomAD-2.1.1 8.05E-06 None None None None N None 0 0 None 0 1.11532E-04 None 0 None 0 0 0
V/I 29083 Ig-145 39 rs139099170 0.0573 0.046 0.001 N 0.211 0.084 0.339316883193 gnomAD-3.1.2 1.97E-05 None None None None N None 2.41E-05 0 0 0 3.85654E-04 None 0 0 0 0 0
V/I 29083 Ig-145 39 rs139099170 0.0573 0.046 0.001 N 0.211 0.084 0.339316883193 gnomAD-4.0.0 1.97174E-05 None None None None N None 2.41324E-05 0 None 0 3.85654E-04 None 0 0 0 0 0
K/Q 29479 Ig-146 36 rs1700830779 0.1057 None 0.968 N 0.413 0.25 0.339316883193 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/Q 29479 Ig-146 36 rs1700830779 0.1057 None 0.968 N 0.413 0.25 0.339316883193 gnomAD-4.0.0 6.57091E-06 None None None None N None 2.41255E-05 0 None 0 0 None 0 0 0 0 0
K/E 29878 Ig-147 37 None 0.1471 None 0.989 N 0.515 0.331 0.367612772649 gnomAD-4.0.0 3.60097E-06 None None None None N None 0 0 None 0 0 None 0 0 3.93751E-06 0 0
K/N 29878 Ig-147 37 rs748356210 0.2837 None 0.998 N 0.537 0.357 0.335910606209 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
V/M 30565 Ig-149 34 None 0.0745 None 0.427 N 0.321 0.075 0.456462010053 gnomAD-4.0.0 1.59124E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.02389E-05
S/A 30964 Ig-150 38 rs752684712 0.0764 -0.166 0.005 N 0.243 0.091 0.220303561663 gnomAD-2.1.1 3.62E-05 None None None None N None 0 2.60764E-04 None 0 0 None 0 None 0 0 0
S/A 30964 Ig-150 38 rs752684712 0.0764 -0.166 0.005 N 0.243 0.091 0.220303561663 gnomAD-3.1.2 6.57E-06 None None None None N None 0 6.54E-05 0 0 0 None 0 0 0 0 0
S/A 30964 Ig-150 38 rs752684712 0.0764 -0.166 0.005 N 0.243 0.091 0.220303561663 gnomAD-4.0.0 1.15302E-05 None None None None N None 0 1.52511E-04 None 0 0 None 0 0 0 0 0
M/I 31254 Ig-151 37 rs1424714918 0.3678 -0.144 0.016 N 0.169 0.209 0.467416895013 gnomAD-2.1.1 7.14E-06 None None None None N None 0 0 None 0 0 None 0 None 0 7.82E-06 1.40371E-04
M/I 31254 Ig-151 37 rs1424714918 0.3678 -0.144 0.016 N 0.169 0.209 0.467416895013 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
M/I 31254 Ig-151 37 rs1424714918 0.3678 -0.144 0.016 N 0.169 0.209 0.467416895013 gnomAD-4.0.0 6.57056E-06 None None None None N None 0 0 None 0 0 None 0 0 1.46972E-05 0 0
M/L 31254 Ig-151 37 rs759588322 0.1467 None 0.045 N 0.217 0.248 0.436025050644 gnomAD-4.0.0 6.84188E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99434E-07 0 0
M/V 31254 Ig-151 37 rs759588322 0.139 -0.338 0.099 N 0.195 0.253 0.480046427281 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
M/V 31254 Ig-151 37 rs759588322 0.139 -0.338 0.099 N 0.195 0.253 0.480046427281 gnomAD-4.0.0 2.73675E-06 None None None None N None 0 0 None 0 0 None 0 0 0 4.63725E-05 0
K/E 31654 Ig-152 34 None 0.1283 None 0.896 N 0.461 0.236 0.375861065471 gnomAD-4.0.0 1.59128E-06 None None None None N None 0 2.28655E-05 None 0 0 None 0 0 0 0 0
K/N 31654 Ig-152 34 None 0.3414 None 0.968 N 0.386 0.294 0.298056030225 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
I/M 32053 Ig-153 37 rs906167122 0.0739 None 0.939 N 0.341 0.175 0.634385825132 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
I/M 32053 Ig-153 37 rs906167122 0.0739 None 0.939 N 0.341 0.175 0.634385825132 gnomAD-4.0.0 4.95805E-06 None None None None N None 0 0 None 0 0 None 0 0 6.78133E-06 0 0
I/T 32053 Ig-153 37 rs62621236 0.0811 -0.092 0.028 N 0.239 0.224 None gnomAD-2.1.1 8.3463E-02 None None None None N None 1.45303E-01 2.02449E-01 None 2.97642E-02 2.7607E-02 None 1.82876E-01 None 5.70709E-02 3.42392E-02 6.49369E-02
I/T 32053 Ig-153 37 rs62621236 0.0811 -0.092 0.028 N 0.239 0.224 None gnomAD-3.1.2 8.3273E-02 None None None None N None 1.44115E-01 1.65224E-01 4.93421E-02 2.9683E-02 2.49227E-02 None 5.83632E-02 8.22785E-02 3.30608E-02 1.78068E-01 7.12237E-02
I/T 32053 Ig-153 37 rs62621236 0.0811 -0.092 0.028 N 0.239 0.224 None 1000 genomes 1.15815E-01 None None None None N None 1.46E-01 1.643E-01 None None 2.58E-02 5.17E-02 None None None 1.994E-01 None
I/T 32053 Ig-153 37 rs62621236 0.0811 -0.092 0.028 N 0.239 0.224 None gnomAD-4.0.0 5.45041E-02 None None None None N None 1.47681E-01 1.91307E-01 None 2.93621E-02 1.50914E-02 None 5.90874E-02 5.49868E-02 3.39113E-02 1.7511E-01 5.99808E-02
I/V 32053 Ig-153 37 None 0.0613 None 0.001 N 0.169 0.08 0.355658859761 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
Q/R 32743 Ig-155 36 rs931997387 0.0811 None 0.001 N 0.137 0.141 0.243972157842 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
Q/R 32743 Ig-155 36 rs931997387 0.0811 None 0.001 N 0.137 0.141 0.243972157842 gnomAD-4.0.0 1.31409E-05 None None None None N None 4.82509E-05 0 None 0 0 None 0 0 0 0 0
K/E 33139 Ig-156 39 rs779723670 0.3756 0.359 0.974 N 0.562 0.38 0.366277470483 gnomAD-2.1.1 1.61E-05 None None None None I None 6.46E-05 5.8E-05 None 0 0 None 0 None 0 8.86E-06 0
K/E 33139 Ig-156 39 rs779723670 0.3756 0.359 0.974 N 0.562 0.38 0.366277470483 gnomAD-3.1.2 1.97E-05 None None None None I None 2.41E-05 0 0 0 0 None 0 0 2.94E-05 0 0
K/E 33139 Ig-156 39 rs779723670 0.3756 0.359 0.974 N 0.562 0.38 0.366277470483 gnomAD-4.0.0 2.41682E-05 None None None None I None 2.66973E-05 3.33456E-05 None 0 0 None 0 0 2.79711E-05 0 3.20225E-05
K/E 33235 Ig-157 33 None 0.1611 None 0.992 N 0.669 0.446 0.399304321381 gnomAD-4.0.0 1.5914E-06 None None None None N None 0 0 None 0 2.77362E-05 None 0 0 0 0 0
K/Q 33235 Ig-157 33 rs774189985 0.1127 0.005 0.994 N 0.668 0.415 0.366466682447 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
K/T 33534 Ig-158 39 None 0.5799 None 0.998 N 0.669 0.604 0.509878532422 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
D/V 33634 Ig-159 39 rs763684680 0.5333 0.288 0.996 N 0.733 0.563 0.638930745872 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
D/V 33634 Ig-159 39 rs763684680 0.5333 0.288 0.996 N 0.733 0.563 0.638930745872 gnomAD-4.0.0 1.59133E-06 None None None None N None 0 2.28634E-05 None 0 0 None 0 0 0 0 0
R/Q 34175 Ig-160 39 rs201954720 0.189 0.111 1.0 N 0.685 0.336 None gnomAD-2.1.1 5.35E-05 None None None None I None 8.27E-05 0 None 0 0 None 3.27E-05 None 4E-05 8.59E-05 0
R/Q 34175 Ig-160 39 rs201954720 0.189 0.111 1.0 N 0.685 0.336 None gnomAD-3.1.2 1.1172E-04 None None None None I None 7.24E-05 0 0 0 0 None 0 0 1.76398E-04 4.14594E-04 0
R/Q 34175 Ig-160 39 rs201954720 0.189 0.111 1.0 N 0.685 0.336 None 1000 genomes 1.99681E-04 None None None None I None 0 0 None None 0 1E-03 None None None 0 None
R/Q 34175 Ig-160 39 rs201954720 0.189 0.111 1.0 N 0.685 0.336 None gnomAD-4.0.0 7.93104E-05 None None None None I None 7.99574E-05 0 None 0 1.55985E-04 None 3.12422E-05 0 8.47577E-05 1.31761E-04 1.60036E-05
Q/E 35167 Ig-164 39 rs1558994144 0.0733 None 0.789 N 0.269 0.088 0.158396225186 gnomAD-2.1.1 4.01E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
Q/E 35167 Ig-164 39 rs1558994144 0.0733 None 0.789 N 0.269 0.088 0.158396225186 gnomAD-4.0.0 2.73654E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79879E-06 1.15931E-05 1.65634E-05
K/E 35458 Ig-166 39 None 0.1373 None 0.316 N 0.328 0.188 0.265010934533 gnomAD-4.0.0 1.38739E-06 None None None None N None 0 0 None 0 0 None 0 0 1.81371E-06 0 0
K/R 35458 Ig-166 39 rs1558983295 0.1012 None 0.972 N 0.475 0.199 0.288352970974 gnomAD-2.1.1 4.23E-06 None None None None N None 0 0 None 0 0 None 0 None 4.77E-05 0 0
K/T 35458 Ig-166 39 None 0.1838 None 0.986 N 0.493 0.416 0.432936702747 gnomAD-4.0.0 1.6442E-06 None None None None N None 0 0 None 0 0 None 0 0 2.93491E-06 0 0
V/A 35643 Ig-167 37 rs1339468653 0.112 -0.437 0.005 N 0.225 0.083 None gnomAD-2.1.1 7.14E-06 None None None None N None 4.13E-05 0 None 0 0 None 0 None 0 0 1.40449E-04
V/A 35643 Ig-167 37 rs1339468653 0.112 -0.437 0.005 N 0.225 0.083 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
V/A 35643 Ig-167 37 rs1339468653 0.112 -0.437 0.005 N 0.225 0.083 None gnomAD-4.0.0 1.85898E-06 None None None None N None 1.33476E-05 0 None 0 0 None 0 0 0 1.09784E-05 1.60097E-05
V/I 35643 Ig-167 37 rs754459138 0.0561 -0.006 0.001 N 0.202 0.031 None gnomAD-2.1.1 6.07E-05 None None None None N None 0 0 None 0 4.61302E-04 None 0 None 0 6.24E-05 0
V/I 35643 Ig-167 37 rs754459138 0.0561 -0.006 0.001 N 0.202 0.031 None gnomAD-3.1.2 3.94E-05 None None None None N None 0 0 0 0 3.85208E-04 None 0 0 5.88E-05 0 0
V/I 35643 Ig-167 37 rs754459138 0.0561 -0.006 0.001 N 0.202 0.031 None Luo (2022) None HCM het None None N Genetic analysis of Hui (CN) HCM family; variant prioritisation in individuals without established pathology; significant echocardiographical differences reported between carrier (n = 4) and non-carrier (n = 12) individuals None None None None None None None None None None None
V/I 35643 Ig-167 37 rs754459138 0.0561 -0.006 0.001 N 0.202 0.031 None gnomAD-4.0.0 9.85272E-05 None None None None N None 0 0 None 0 2.00526E-04 None 0 0 1.25439E-04 0 3.20184E-05
L/P 35740 Ig-168 39 None 0.9476 None 0.301 N 0.4 0.27 0.695163590071 gnomAD-4.0.0 1.20037E-06 None None None None N None 0 0 None 0 0 None 0 0 1.31255E-06 0 0
L/V 35740 Ig-168 39 rs1176056991 0.1094 -0.342 0.019 N 0.187 0.053 0.170165803431 gnomAD-2.1.1 8.26E-06 None None None None N None 0 5.98E-05 None 0 0 None 0 None 0 0 0
L/V 35740 Ig-168 39 rs1176056991 0.1094 -0.342 0.019 N 0.187 0.053 0.170165803431 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
L/V 35740 Ig-168 39 rs1176056991 0.1094 -0.342 0.019 N 0.187 0.053 0.170165803431 gnomAD-4.0.0 1.87044E-06 None None None None N None 0 5.09061E-05 None 0 0 None 0 0 0 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.