Structural position:

  • Domain Type: Ig
  • Aligned Position: 24
  • 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
G/D 20 Ig-1 15 None 0.3204 None 1.0 D 0.825 0.773 0.631643887469 gnomAD-4.0.0 1.20032E-06 None None None 0.072(TCAP) N None 0 0 None 0 0 None 0 6.17284E-04 0 0 0
G/C 957 Ig-3 15 None 0.9922 None 1.0 D 0.843 0.662 0.922720591454 gnomAD-4.0.0 2.40067E-06 None None None None N None 0 0 None 0 0 None 0 0 2.62503E-06 0 0
G/S 957 Ig-3 15 None 0.9031 None 1.0 D 0.849 0.529 0.657325010897 gnomAD-4.0.0 1.20033E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.66327E-05
G/V 1096 Ig-4 15 rs2154349693 0.8669 None 1.0 D 0.843 0.755 0.941488383014 gnomAD-4.0.0 1.36814E-06 None None None None I None 0 0 None 0 0 None 0 0 1.79858E-06 0 0
G/A 1305 Ig-5 15 rs1357320718 0.7365 -0.419 1.0 D 0.785 0.775 0.668480267452 gnomAD-2.1.1 4E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.86E-06 0
G/A 1305 Ig-5 15 rs1357320718 0.7365 -0.419 1.0 D 0.785 0.775 0.668480267452 gnomAD-4.0.0 1.59106E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85724E-06 0 0
G/E 1305 Ig-5 15 None 0.8323 None 1.0 D 0.841 0.786 0.879687484539 gnomAD-4.0.0 1.59106E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43303E-05 0
G/R 1305 Ig-5 15 rs199889888 0.9199 -0.545 1.0 D 0.86 0.826 0.904080593739 gnomAD-2.1.1 5.2E-05 None None None None N None 0 0 None 0 0 None 0 None 4.63E-05 9.75E-05 1.6442E-04
G/R 1305 Ig-5 15 rs199889888 0.9199 -0.545 1.0 D 0.86 0.826 0.904080593739 gnomAD-3.1.2 1.31E-05 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 4.77555E-04
G/R 1305 Ig-5 15 rs199889888 0.9199 -0.545 1.0 D 0.86 0.826 0.904080593739 gnomAD-4.0.0 2.41677E-05 None None None None N None 0 0 None 0 0 None 4.68794E-05 0 2.28846E-05 0 1.44051E-04
G/W 1305 Ig-5 15 rs199889888 0.9701 -1.154 1.0 D 0.834 0.866 None gnomAD-2.1.1 6.04E-05 None None None None N None 0 5.65E-05 None 0 0 None 0 None 7.97E-05 9.35E-05 1.39509E-04
G/W 1305 Ig-5 15 rs199889888 0.9701 -1.154 1.0 D 0.834 0.866 None gnomAD-3.1.2 1.97E-05 None None None None N None 0 0 0 0 0 None 0 0 4.41E-05 0 0
G/W 1305 Ig-5 15 rs199889888 0.9701 -1.154 1.0 D 0.834 0.866 None gnomAD-4.0.0 4.02795E-05 None None None None N None 0 5.0015E-05 None 0 0 None 1.56265E-05 4.93583E-04 4.49216E-05 0 8.00282E-05
G/A 1471 Ig-6 15 rs1028140338 0.6426 None 1.0 D 0.77 0.715 0.667215114413 gnomAD-3.1.2 1.31E-05 None None None None I None 0 0 0 0 0 None 0 0 2.94E-05 0 0
G/A 1471 Ig-6 15 rs1028140338 0.6426 None 1.0 D 0.77 0.715 0.667215114413 gnomAD-4.0.0 1.3147E-05 None None None None I None 0 0 None 0 0 None 0 0 2.93945E-05 0 0
G/E 1471 Ig-6 15 rs1028140338 0.6836 None 1.0 D 0.831 0.693 0.876035374508 gnomAD-4.0.0 1.59073E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85688E-06 0 0
G/A 1570 Ig-7 15 rs199910114 0.3682 -0.13 1.0 D 0.759 0.734 None gnomAD-2.1.1 6.38E-05 None None None None N None 6.00913E-04 8.47E-05 None 0 0 None 0 None 0 0 0
G/A 1570 Ig-7 15 rs199910114 0.3682 -0.13 1.0 D 0.759 0.734 None gnomAD-3.1.2 9.86E-05 None None None None N None 2.89464E-04 1.30941E-04 0 0 0 None 0 0 0 0 4.78011E-04
G/A 1570 Ig-7 15 rs199910114 0.3682 -0.13 1.0 D 0.759 0.734 None 1000 genomes 3.99361E-04 None None None None N None 1.5E-03 0 None None 0 0 None None None 0 None
G/A 1570 Ig-7 15 rs199910114 0.3682 -0.13 1.0 D 0.759 0.734 None gnomAD-4.0.0 2.35433E-05 None None None None N None 3.86409E-04 9.99867E-05 None 0 0 None 0 0 0 0 4.79969E-05
G/C 1570 Ig-7 15 None 0.6398 None 1.0 D 0.792 0.836 0.888038843388 gnomAD-4.0.0 3.18143E-06 None None None None N None 5.65419E-05 0 None 0 0 None 0 0 2.85673E-06 0 0
G/D 1570 Ig-7 15 None 0.3747 None 1.0 D 0.825 0.769 0.689628011126 gnomAD-4.0.0 6.84106E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99319E-07 0 0
G/S 1570 Ig-7 15 rs1405416253 0.218 -0.333 1.0 D 0.787 0.721 0.652782900136 gnomAD-2.1.1 3.99E-06 None None None None N None 0 2.89E-05 None 0 0 None 0 None 0 0 0
G/S 1570 Ig-7 15 rs1405416253 0.218 -0.333 1.0 D 0.787 0.721 0.652782900136 gnomAD-4.0.0 1.59072E-06 None None None None N None 0 2.28676E-05 None 0 0 None 0 0 0 0 0
G/V 1570 Ig-7 15 rs199910114 0.7304 None 1.0 D 0.791 0.809 0.857513295568 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
G/V 1570 Ig-7 15 rs199910114 0.7304 None 1.0 D 0.791 0.809 0.857513295568 gnomAD-4.0.0 2.47842E-06 None None None None N None 0 0 None 0 0 None 0 0 3.38991E-06 0 0
G/E 1855 Ig-9 15 rs753507549 0.6837 -1.285 1.0 D 0.853 0.886 0.678765193132 gnomAD-2.1.1 3.54E-05 None None None None N None 0 2.82199E-04 None 0 0 None 0 None 0 0 0
G/E 1855 Ig-9 15 rs753507549 0.6837 -1.285 1.0 D 0.853 0.886 0.678765193132 gnomAD-3.1.2 1.31E-05 None None None None N None 0 1.30907E-04 0 0 0 None 0 0 0 0 0
G/E 1855 Ig-9 15 rs753507549 0.6837 -1.285 1.0 D 0.853 0.886 0.678765193132 gnomAD-4.0.0 1.28071E-05 None None None None N None 0 1.69457E-04 None 0 0 None 0 0 0 0 0
G/D 2370 Ig-13 15 rs767484363 0.727 -1.106 0.996 D 0.796 0.766 0.658271391856 gnomAD-2.1.1 3.99E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
G/S 2370 Ig-13 15 rs752484533 0.3817 -0.533 0.663 D 0.576 0.567 0.386721274199 gnomAD-2.1.1 3.99E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
G/S 2370 Ig-13 15 rs752484533 0.3817 -0.533 0.663 D 0.576 0.567 0.386721274199 gnomAD-4.0.0 1.59067E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43279E-05 0
G/S 2459 Ig-14 15 rs374967916 0.4705 -0.807 1.0 D 0.795 0.77 None gnomAD-2.1.1 2.13E-05 None None None None N None 4.01E-05 0 None 0 0 None 0 None 0 3.89E-05 0
G/S 2459 Ig-14 15 rs374967916 0.4705 -0.807 1.0 D 0.795 0.77 None gnomAD-3.1.2 5.91E-05 None None None None N None 2.41E-05 0 0 0 0 None 0 0 1.17612E-04 0 0
G/S 2459 Ig-14 15 rs374967916 0.4705 -0.807 1.0 D 0.795 0.77 None gnomAD-4.0.0 4.08941E-05 None None None None N None 1.33458E-05 0 None 0 0 None 0 0 5.25436E-05 0 4.80123E-05
T/A 2547 Ig-15 15 rs984424988 0.2853 None 0.948 N 0.518 0.364 0.362361684037 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/I 2547 Ig-15 15 None 0.7287 None 0.998 D 0.541 0.494 0.712238429313 gnomAD-4.0.0 3.18168E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71344E-06 0 0
S/P 2634 Ig-16 14 rs1488243679 0.9458 -0.459 1.0 N 0.729 0.544 0.431150418975 gnomAD-2.1.1 3.18E-05 None None None None N None 1.14705E-04 0 None 0 0 None 0 None 0 0 0
S/P 2634 Ig-16 14 rs1488243679 0.9458 -0.459 1.0 N 0.729 0.544 0.431150418975 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
S/P 2634 Ig-16 14 rs1488243679 0.9458 -0.459 1.0 N 0.729 0.544 0.431150418975 gnomAD-4.0.0 5.12341E-06 None None None None N None 3.38215E-05 0 None 0 0 None 0 0 0 0 5.68666E-05
N/K 2809 Ig-18 15 rs762595856 0.3362 0.287 0.979 N 0.365 0.333 0.191931220699 gnomAD-2.1.1 3.99E-06 None None None None N None 0 0 None 0 5.44E-05 None 0 None 0 0 0
N/K 2809 Ig-18 15 rs762595856 0.3362 0.287 0.979 N 0.365 0.333 0.191931220699 gnomAD-4.0.0 1.59048E-06 None None None None N None 0 0 None 0 2.773E-05 None 0 0 0 0 0
T/I 2896 Ig-19 15 rs72647884 0.6473 -0.432 1.0 D 0.717 0.513 0.611931882649 Taylor (2011) Anderson (2013) Bogolomovas (2016) Fleming (2021) None ARVC het None None N Genetic analysis of TTN in 38 ARVC families; complete segregation in 3-generation family (n = 7, 7 affected (total 11)); Strong destabilisation of domain in vitro; altered conformational dynamics of tandem in silico; echocardiography of knock-in mice show mild diastolic dysfunction / myocardial stiffness; MD characterisation of variants at the T2896 position None None None None None None None None None None None
T/I 2896 Ig-19 15 rs72647884 0.6473 -0.432 1.0 D 0.717 0.513 0.611931882649 gnomAD-4.0.0 1.59054E-06 None None None None N None 5.65227E-05 0 None 0 0 None 0 0 0 0 0
K/R 2983 Ig-20 15 rs1387550627 0.1919 None 0.217 N 0.368 0.195 0.264547087235 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 2983 Ig-20 15 rs1387550627 0.1919 None 0.217 N 0.368 0.195 0.264547087235 gnomAD-4.0.0 6.56909E-06 None None None None N None 0 0 None 0 0 None 0 0 1.46959E-05 0 0
K/E 3072 Ig-21 15 rs752455147 0.8246 0.354 0.996 N 0.659 0.399 0.436239592564 gnomAD-2.1.1 1.2E-05 None None None None N None 0 0 None 0 0 None 6.53E-05 None 0 8.82E-06 0
K/E 3072 Ig-21 15 rs752455147 0.8246 0.354 0.996 N 0.659 0.399 0.436239592564 gnomAD-4.0.0 7.95312E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85649E-06 5.73082E-05 0
K/E 3161 Ig-22 15 rs113021611 0.3662 None 0.939 D 0.587 0.411 0.385906861911 gnomAD-4.0.0 1.36959E-06 None None None None N None 0 0 None 0 0 None 0 0 1.80058E-06 0 0
G/C 3253 Ig-23 15 None 0.9183 None 1.0 D 0.865 0.877 0.913288574779 gnomAD-4.0.0 1.59099E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85682E-06 0 0
G/R 3479 Ig-25 15 rs746691102 0.3786 -0.861 None None None 0.598 None gnomAD-2.1.1 6.79E-05 None None None None I None 0 2.83014E-04 None 0 5.12E-05 None 3.27E-05 None 0 4.69E-05 1.40528E-04
G/R 3479 Ig-25 15 rs746691102 0.3786 -0.861 None None None 0.598 None gnomAD-3.1.2 5.26E-05 None None None None I None 0 6.54E-05 0 0 0 None 0 0 1.02905E-04 0 0
G/R 3479 Ig-25 15 rs746691102 0.3786 -0.861 None None None 0.598 None gnomAD-4.0.0 7.1275E-05 None None None None I None 0 2.66658E-04 None 0 0 None 0 0 8.22276E-05 1.09842E-05 1.60128E-05
G/S 3674 Ig-26 15 rs752146394 0.2111 -0.647 None None None 0.241 None gnomAD-2.1.1 3.22E-05 None None None None I None 0 0 None 0 1.11744E-04 None 3.27E-05 None 0 4.44E-05 0
G/S 3674 Ig-26 15 rs752146394 0.2111 -0.647 None None None 0.241 None gnomAD-3.1.2 1.31E-05 None None None None I None 0 0 0 0 0 None 0 0 2.94E-05 0 0
G/S 3674 Ig-26 15 rs752146394 0.2111 -0.647 None None None 0.241 None gnomAD-4.0.0 3.96626E-05 None None None None I None 0 0 None 0 6.69165E-05 None 0 4.93097E-04 4.577E-05 1.09801E-05 4.80323E-05
G/R 3834 Ig-27 15 rs749170112 0.4736 -0.614 0.978 D 0.819 0.575 None 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
G/R 3834 Ig-27 15 rs749170112 0.4736 -0.614 0.978 D 0.819 0.575 None gnomAD-4.0.0 3.18305E-06 None None None None N None 0 4.57519E-05 None 0 0 None 0 0 0 0 0
G/E 3952 Ig-28 15 rs779033634 0.4002 -1.583 0.999 D 0.852 0.576 None gnomAD-2.1.1 1.21E-05 None None None None I None 1.93849E-04 0 None 0 0 None 0 None 0 0 0
G/E 3952 Ig-28 15 rs779033634 0.4002 -1.583 0.999 D 0.852 0.576 None gnomAD-3.1.2 4.6E-05 None None None None I None 1.44858E-04 0 0 0 0 None 0 0 0 0 4.78469E-04
G/E 3952 Ig-28 15 rs779033634 0.4002 -1.583 0.999 D 0.852 0.576 None gnomAD-4.0.0 6.81663E-06 None None None None I None 1.33526E-04 0 None 0 0 None 0 0 0 0 1.60108E-05
G/R 3952 Ig-28 15 rs772014276 0.5128 -0.814 0.999 D 0.856 0.646 None gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.9E-06 0
G/R 3952 Ig-28 15 rs772014276 0.5128 -0.814 0.999 D 0.856 0.646 None gnomAD-4.0.0 1.59109E-06 None None None None I None 0 0 None 0 0 None 0 0 0 0 3.02407E-05
G/V 3952 Ig-28 15 rs779033634 0.5963 -0.571 0.999 D 0.85 0.594 None gnomAD-2.1.1 8.05E-06 None None None None I None 0 0 None 0 0 None 0 None 0 1.78E-05 0
G/V 3952 Ig-28 15 rs779033634 0.5963 -0.571 0.999 D 0.85 0.594 None gnomAD-4.0.0 2.05253E-06 None None None None I None 0 0 None 0 0 None 0 0 2.6983E-06 0 0
G/D 4620 Ig-29 15 rs55857742 0.1671 -1.448 0.002 D 0.334 0.404 None gnomAD-2.1.1 3.5296E-03 None None None None N None 2.06594E-04 7.63964E-04 None 1.06465E-03 1.02648E-04 None 2.23842E-02 None 4E-05 1.83849E-03 3.09249E-03
G/D 4620 Ig-29 15 rs55857742 0.1671 -1.448 0.002 D 0.334 0.404 None gnomAD-3.1.2 1.81364E-03 None None None None N None 2.41289E-04 1.83366E-03 0 8.65052E-04 0 None 9.41E-05 0 1.69028E-03 2.38391E-02 1.91022E-03
G/D 4620 Ig-29 15 rs55857742 0.1671 -1.448 0.002 D 0.334 0.404 None 1000 genomes 5.99042E-03 None None None None N None 0 1.4E-03 None None 0 3E-03 None None None 2.66E-02 None
G/D 4620 Ig-29 15 rs55857742 0.1671 -1.448 0.002 D 0.334 0.404 None gnomAD-4.0.0 2.23065E-03 None None None None N None 3.19812E-04 9.999E-04 None 8.44652E-04 1.56069E-04 None 7.80982E-05 4.12541E-03 1.10271E-03 2.16298E-02 2.92875E-03
G/R 4620 Ig-29 15 rs905994651 0.3966 None 0.81 D 0.669 0.606 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/R 4620 Ig-29 15 rs905994651 0.3966 None 0.81 D 0.669 0.606 None gnomAD-4.0.0 6.57168E-06 None None None None N None 2.41313E-05 0 None 0 0 None 0 0 0 0 0
G/S 4620 Ig-29 15 None 0.16 None 0.379 D 0.413 0.521 None gnomAD-4.0.0 2.40064E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 3.66327E-05
G/V 4620 Ig-29 15 rs55857742 0.4708 -0.549 0.81 D 0.701 0.642 None 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
G/V 4620 Ig-29 15 rs55857742 0.4708 -0.549 0.81 D 0.701 0.642 None gnomAD-4.0.0 1.36838E-06 None None None None N None 0 0 None 0 2.52067E-05 None 0 0 8.99444E-07 0 0
G/D 4714 Ig-30 15 rs750125429 0.8677 -0.914 0.997 D 0.791 0.814 0.736588646186 gnomAD-2.1.1 8.23E-05 None None None None I None 0 0 None 0 1.08348E-03 None 0 None 0 1.56E-05 0
G/D 4714 Ig-30 15 rs750125429 0.8677 -0.914 0.997 D 0.791 0.814 0.736588646186 gnomAD-3.1.2 3.29E-05 None None None None I None 0 0 0 0 9.61908E-04 None 0 0 0 0 0
G/D 4714 Ig-30 15 rs750125429 0.8677 -0.914 0.997 D 0.791 0.814 0.736588646186 Liu (2008) None DCM het None None I Genetic analysis of CN DCM families (n = 2, 2 affected) None None None None None None None None None None None
G/D 4714 Ig-30 15 rs750125429 0.8677 -0.914 0.997 D 0.791 0.814 0.736588646186 gnomAD-4.0.0 2.35542E-05 None None None None I None 0 0 None 0 6.92242E-04 None 0 0 5.0863E-06 0 1.6021E-05
G/S 4714 Ig-30 15 rs757944467 0.4374 -0.634 0.997 D 0.763 0.757 0.684895203126 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.9E-06 0
G/S 4714 Ig-30 15 rs757944467 0.4374 -0.634 0.997 D 0.763 0.757 0.684895203126 gnomAD-4.0.0 3.18439E-06 None None None None I None 0 0 None 0 0 None 0 0 5.7188E-06 0 0
G/D 4809 Ig-31 15 rs757553783 0.4446 -0.962 0.999 D 0.869 0.698 0.735466501022 gnomAD-2.1.1 4.05E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.94E-06 0
G/D 4809 Ig-31 15 rs757553783 0.4446 -0.962 0.999 D 0.869 0.698 0.735466501022 gnomAD-4.0.0 3.42589E-06 None None None None I None 0 0 None 0 0 None 0 0 4.50237E-06 0 0
G/S 4809 Ig-31 15 rs371784232 0.2525 -1.126 0.867 D 0.575 0.671 None gnomAD-2.1.1 1.8E-05 None None None None I None 0 0 None 0 0 None 0 None 0 3.93E-05 0
G/S 4809 Ig-31 15 rs371784232 0.2525 -1.126 0.867 D 0.575 0.671 None 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
G/S 4809 Ig-31 15 rs371784232 0.2525 -1.126 0.867 D 0.575 0.671 None gnomAD-4.0.0 1.30318E-05 None None None None I None 0 0 None 0 0 None 0 0 1.44252E-05 0 6.41601E-05
N/H 4902 Ig-32 15 rs1461011434 0.1305 None 0.999 D 0.559 0.487 0.371531589858 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
N/H 4902 Ig-32 15 rs1461011434 0.1305 None 0.999 D 0.559 0.487 0.371531589858 gnomAD-4.0.0 6.56996E-06 None None None None I None 0 0 None 0 0 None 0 0 1.46977E-05 0 0
N/S 4902 Ig-32 15 rs1208544617 0.0919 None 0.978 D 0.519 0.401 0.29527378943 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
N/S 4902 Ig-32 15 rs1208544617 0.0919 None 0.978 D 0.519 0.401 0.29527378943 gnomAD-4.0.0 2.5621E-06 None None None None I None 0 0 None 0 0 None 0 0 4.78572E-06 0 0
G/D 4996 Ig-33 16 None 0.5289 None 1.0 D 0.864 0.715 0.62430428174 gnomAD-4.0.0 1.60299E-06 None None None None I None 0 2.32992E-05 None 0 0 None 0 0 0 0 0
G/R 5089 Ig-34 15 None 0.9034 None 1.0 D 0.853 0.871 0.909226227841 gnomAD-4.0.0 1.37979E-06 None None None None I None 0 0 None 0 0 None 0 0 1.8102E-06 0 0
G/V 5089 Ig-34 15 rs758657662 0.8789 -0.282 1.0 D 0.809 0.891 0.960465558174 gnomAD-2.1.1 8.39E-06 None None None None I None 0 0 None 0 0 None 0 None 0 1.84E-05 0
G/V 5089 Ig-34 15 rs758657662 0.8789 -0.282 1.0 D 0.809 0.891 0.960465558174 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/V 5089 Ig-34 15 rs758657662 0.8789 -0.282 1.0 D 0.809 0.891 0.960465558174 gnomAD-4.0.0 2.60064E-06 None None None None I None 0 0 None 0 0 None 0 0 4.86277E-06 0 0
G/R 5182 Ig-35 15 rs775552018 0.2494 -0.439 1.0 D 0.863 0.741 0.906498380218 gnomAD-2.1.1 2.43E-05 None None None None I None 0 0 None 0 3.35196E-04 None 0 None 0 0 0
G/R 5182 Ig-35 15 rs775552018 0.2494 -0.439 1.0 D 0.863 0.741 0.906498380218 gnomAD-3.1.2 6.57E-06 None None None None I None 2.41E-05 0 0 0 0 None 0 0 0 0 0
G/R 5182 Ig-35 15 rs775552018 0.2494 -0.439 1.0 D 0.863 0.741 0.906498380218 gnomAD-4.0.0 6.86816E-07 None None None None I None 0 0 None 0 0 None 0 0 9.0283E-07 0 0
G/E 5275 Ig-36 15 None 0.815 None 1.0 D 0.898 0.807 0.709239017261 gnomAD-4.0.0 6.84271E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99535E-07 0 0
G/R 5275 Ig-36 15 rs1019067272 0.7081 None 1.0 D 0.911 0.79 0.713845456477 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/R 5275 Ig-36 15 rs1019067272 0.7081 None 1.0 D 0.911 0.79 0.713845456477 gnomAD-4.0.0 3.09865E-06 None None None None I None 0 0 None 0 0 None 0 0 4.2383E-06 0 0
N/I 5371 Ig-37 15 None 0.2058 None 0.171 N 0.565 0.184 0.428747304603 gnomAD-4.0.0 1.5961E-06 None None None None I None 0 0 None 0 0 None 0 0 2.86709E-06 0 0
G/A 5464 Ig-38 15 rs377023302 0.1719 -0.413 0.235 D 0.345 0.555 0.439975540334 gnomAD-2.1.1 8.77E-05 None None None None I None 0 0 None 0 7.84273E-04 None 2.05691E-04 None 0 0 4.34279E-04
G/A 5464 Ig-38 15 rs377023302 0.1719 -0.413 0.235 D 0.345 0.555 0.439975540334 gnomAD-3.1.2 4.6E-05 None None None None I None 0 6.55E-05 0 0 7.69823E-04 None 0 0 0 4.1425E-04 0
G/A 5464 Ig-38 15 rs377023302 0.1719 -0.413 0.235 D 0.345 0.555 0.439975540334 1000 genomes 1.99681E-04 None None None None I None 0 0 None None 1E-03 0 None None None 0 None
G/A 5464 Ig-38 15 rs377023302 0.1719 -0.413 0.235 D 0.345 0.555 0.439975540334 gnomAD-4.0.0 3.48483E-05 None None None None I None 0 1.69377E-05 None 0 4.03316E-04 None 0 0 8.50038E-07 2.11074E-04 2.73497E-04
G/D 5464 Ig-38 15 None 0.1723 None 0.987 D 0.819 0.744 0.586816528483 gnomAD-4.0.0 2.06217E-06 None None None None I None 0 0 None 0 0 None 0 0 2.70654E-06 0 0
G/S 5464 Ig-38 15 rs2080761564 0.1165 None 0.955 D 0.697 0.68 0.552615868945 gnomAD-4.0.0 1.60876E-06 None None None None I None 0 0 None 0 2.79142E-05 None 0 0 0 0 0
G/V 5464 Ig-38 15 rs377023302 0.3484 -0.235 0.987 D 0.798 0.792 0.936659473722 gnomAD-2.1.1 4.13E-06 None None None None I None 0 3E-05 None 0 0 None 0 None 0 0 0
G/V 5464 Ig-38 15 rs377023302 0.3484 -0.235 0.987 D 0.798 0.792 0.936659473722 gnomAD-4.0.0 6.8739E-07 None None None None I None 0 2.2854E-05 None 0 0 None 0 0 0 0 0
E/A 5651 Ig-40 15 None 0.2091 None 0.27 N 0.461 0.273 0.343788945184 gnomAD-4.0.0 1.59197E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.4334E-05 0
E/G 5651 Ig-40 15 rs1180270942 0.1397 -0.304 0.001 N 0.242 0.236 0.149567049428 gnomAD-2.1.1 6.37E-05 None None None None I None 0 0 None 0 0 None 0 None 0 1.29601E-04 0
E/G 5651 Ig-40 15 rs1180270942 0.1397 -0.304 0.001 N 0.242 0.236 0.149567049428 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
E/G 5651 Ig-40 15 rs1180270942 0.1397 -0.304 0.001 N 0.242 0.236 0.149567049428 gnomAD-4.0.0 2.56306E-06 None None None None I None 0 0 None 0 0 None 1.56917E-05 0 2.39388E-06 0 0
E/K 5651 Ig-40 15 rs368458199 0.4212 0.439 0.425 N 0.358 0.296 None gnomAD-2.1.1 4.04E-06 None None None None I None 6.46E-05 0 None 0 0 None 0 None 0 0 0
E/K 5651 Ig-40 15 rs368458199 0.4212 0.439 0.425 N 0.358 0.296 None gnomAD-3.1.2 1.31E-05 None None None None I None 4.82E-05 0 0 0 0 None 0 0 0 0 0
E/K 5651 Ig-40 15 rs368458199 0.4212 0.439 0.425 N 0.358 0.296 None gnomAD-4.0.0 4.05986E-06 None None None None I None 6.98714E-05 0 None 0 0 None 0 0 0 0 0
G/R 5744 Ig-41 15 rs371788854 0.5705 0.086 1.0 D 0.797 0.801 0.852908763123 gnomAD-2.1.1 4.04E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.94E-06 0
G/R 5744 Ig-41 15 rs371788854 0.5705 0.086 1.0 D 0.797 0.801 0.852908763123 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
G/R 5744 Ig-41 15 rs371788854 0.5705 0.086 1.0 D 0.797 0.801 0.852908763123 gnomAD-4.0.0 6.84654E-07 None None None None I None 0 0 None 0 0 None 0 0 8.9986E-07 0 0
G/V 5744 Ig-41 15 rs760630120 0.63 0.173 1.0 D 0.757 0.75 0.897311072597 gnomAD-2.1.1 4.04E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.94E-06 0
G/V 5744 Ig-41 15 rs760630120 0.63 0.173 1.0 D 0.757 0.75 0.897311072597 gnomAD-4.0.0 1.59361E-06 None None None None I None 0 0 None 0 0 None 0 0 2.86213E-06 0 0
G/R 5837 Ig-42 15 None 0.6217 None 0.085 D 0.468 0.665 0.7096256102 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
G/C 5933 Ig-43 15 rs759141033 0.7458 -0.804 1.0 D 0.775 0.883 0.910155467926 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
G/C 5933 Ig-43 15 rs759141033 0.7458 -0.804 1.0 D 0.775 0.883 0.910155467926 gnomAD-4.0.0 8.22489E-06 None None None None N None 0 4.48189E-05 None 0 0 None 0 0 8.10888E-06 0 1.65926E-05
G/D 5933 Ig-43 15 rs2080306772 0.3138 None 0.999 D 0.81 0.755 0.627475323314 gnomAD-4.0.0 8.40225E-06 None None None None N None 0 0 None 0 0 None 0 0 7.87501E-06 0 3.66327E-05
G/S 5933 Ig-43 15 rs759141033 0.2382 -0.642 0.992 D 0.741 0.754 0.59581446357 gnomAD-2.1.1 4.06E-06 None None None None N None 0 0 None 0 5.58E-05 None 0 None 0 0 0
G/S 5933 Ig-43 15 rs759141033 0.2382 -0.642 0.992 D 0.741 0.754 0.59581446357 gnomAD-4.0.0 4.79785E-06 None None None None N None 0 0 None 0 2.52564E-05 None 0 0 3.60395E-06 1.16201E-05 1.6592E-05
N/S 6026 Ig-44 15 None 0.0681 None None N 0.145 0.12 0.0297737177859 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 6120 Ig-45 16 rs764816850 0.2719 -0.357 0.997 D 0.684 0.74 0.673390244647 gnomAD-2.1.1 2.01E-05 None None None None I None 0 0 None 0 2.80584E-04 None 0 None 0 0 0
G/A 6120 Ig-45 16 rs764816850 0.2719 -0.357 0.997 D 0.684 0.74 0.673390244647 gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 1.93199E-04 None 0 0 0 0 0
G/A 6120 Ig-45 16 rs764816850 0.2719 -0.357 0.997 D 0.684 0.74 0.673390244647 gnomAD-4.0.0 1.53814E-05 None None None None I None 0 0 None 0 2.91687E-04 None 0 0 0 0 0
Y/C 6213 Ig-46 15 rs1489995255 0.1169 None 0.008 N 0.37 0.123 0.499665682712 gnomAD-4.0.0 1.59189E-06 None None None None N None 0 0 None 0 0 None 0 2.41896E-04 0 0 0
Y/F 6213 Ig-46 15 rs1489995255 0.0905 0.004 None N 0.27 0.129 0.335661160332 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
Y/F 6213 Ig-46 15 rs1489995255 0.0905 0.004 None N 0.27 0.129 0.335661160332 gnomAD-4.0.0 1.59189E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43312E-05 0
G/A 6495 Ig-49 15 rs182633829 0.3574 -0.336 0.991 D 0.658 0.662 None gnomAD-2.1.1 4.13E-06 None None None None N None 0 0 None 0 5.67E-05 None 0 None 0 0 0
G/A 6495 Ig-49 15 rs182633829 0.3574 -0.336 0.991 D 0.658 0.662 None gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 1.92827E-04 None 0 0 0 0 0
G/A 6495 Ig-49 15 rs182633829 0.3574 -0.336 0.991 D 0.658 0.662 None 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 1E-03 0 None None None 0 None
G/A 6495 Ig-49 15 rs182633829 0.3574 -0.336 0.991 D 0.658 0.662 None gnomAD-4.0.0 3.86666E-06 None None None None N None 0 0 None 0 7.30034E-05 None 0 0 0 0 0
G/D 6495 Ig-49 15 rs182633829 0.384 None 0.999 D 0.763 0.644 0.687563720044 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/D 6495 Ig-49 15 rs182633829 0.384 None 0.999 D 0.763 0.644 0.687563720044 gnomAD-4.0.0 6.57601E-06 None None None None N None 2.41429E-05 0 None 0 0 None 0 0 0 0 0
D/H 6588 Ig-50 15 None 0.3015 None 0.988 N 0.593 0.398 0.39843156188 gnomAD-4.0.0 6.85357E-06 None None None None N None 0 0 None 0 0 None 0 0 9.00526E-06 0 0
D/N 6588 Ig-50 15 None 0.0958 None 0.061 N 0.301 0.224 0.233785782151 gnomAD-4.0.0 6.85357E-07 None None None None N None 0 0 None 0 0 None 0 0 9.00526E-07 0 0
G/C 6682 Ig-51 16 rs1455272126 0.5549 -0.871 1.0 D 0.813 0.574 0.803802688793 gnomAD-2.1.1 4.06E-06 None None None None N None 0 0 None 0 0 None 3.33E-05 None 0 0 0
G/C 6682 Ig-51 16 rs1455272126 0.5549 -0.871 1.0 D 0.813 0.574 0.803802688793 gnomAD-4.0.0 1.59923E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.44421E-05 0
G/D 6682 Ig-51 16 None 0.3283 None 1.0 D 0.863 0.562 0.588653130956 gnomAD-4.0.0 6.85637E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.16678E-05 0
G/V 6682 Ig-51 16 rs534432929 0.6316 -0.333 1.0 D 0.844 0.597 0.803020852194 gnomAD-2.1.1 2.84E-05 None None None None N None 0 0 None 0 0 None 2.32976E-04 None 0 0 0
G/V 6682 Ig-51 16 rs534432929 0.6316 -0.333 1.0 D 0.844 0.597 0.803020852194 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 0 None 0 0 0 4.14422E-04 0
G/V 6682 Ig-51 16 rs534432929 0.6316 -0.333 1.0 D 0.844 0.597 0.803020852194 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 0 None None None 1E-03 None
G/V 6682 Ig-51 16 rs534432929 0.6316 -0.333 1.0 D 0.844 0.597 0.803020852194 gnomAD-4.0.0 1.73838E-05 None None None None N None 0 0 None 0 0 None 0 0 0 2.9825E-04 1.60447E-05
N/S 6775 Ig-52 15 None 0.0953 None 0.042 N 0.42 0.091 0.158396225186 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
G/R 6868 Ig-53 15 rs17355460 0.3577 -0.517 1.0 D 0.781 0.585 0.742123482493 gnomAD-2.1.1 1.16434E-02 None None None None I None 3.23571E-03 5.40696E-03 None 9.2388E-03 0 None 7.43684E-03 None 1.26495E-02 1.7572E-02 1.49425E-02
G/R 6868 Ig-53 15 rs17355460 0.3577 -0.517 1.0 D 0.781 0.585 0.742123482493 gnomAD-3.1.2 1.16343E-02 None None None None I None 3.25851E-03 1.09494E-02 3.95604E-02 1.1534E-02 0 None 1.04776E-02 0 1.77211E-02 8.10137E-03 1.72414E-02
G/R 6868 Ig-53 15 rs17355460 0.3577 -0.517 1.0 D 0.781 0.585 0.742123482493 1000 genomes 6.58946E-03 None None None None I None 8E-04 8.6E-03 None None 0 2.09E-02 None None None 5.1E-03 None
G/R 6868 Ig-53 15 rs17355460 0.3577 -0.517 1.0 D 0.781 0.585 0.742123482493 gnomAD-4.0.0 1.57669E-02 None None None None I None 2.94063E-03 7.77315E-03 None 9.68117E-03 4.46668E-05 None 1.27968E-02 1.1794E-02 1.8499E-02 7.87297E-03 1.58189E-02
G/A 6962 Ig-54 15 None 0.4018 None 0.999 D 0.661 0.67 0.647936649257 gnomAD-4.0.0 6.86412E-07 None None None None I None 0 0 None 0 0 None 0 0 9.02418E-07 0 0
G/E 6962 Ig-54 15 rs531296995 0.4117 -0.747 1.0 D 0.773 0.611 0.868753955422 gnomAD-2.1.1 4.04E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.92E-06 0
G/E 6962 Ig-54 15 rs531296995 0.4117 -0.747 1.0 D 0.773 0.611 0.868753955422 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
G/E 6962 Ig-54 15 rs531296995 0.4117 -0.747 1.0 D 0.773 0.611 0.868753955422 1000 genomes 1.99681E-04 None None None None I None 0 0 None None 0 1E-03 None None None 0 None
G/E 6962 Ig-54 15 rs531296995 0.4117 -0.747 1.0 D 0.773 0.611 0.868753955422 gnomAD-4.0.0 4.97185E-06 None None None None I None 0 0 None 0 0 None 0 1.65728E-04 5.95181E-06 0 0
G/R 6962 Ig-54 15 None 0.4925 None 1.0 D 0.778 0.697 0.89534292295 gnomAD-4.0.0 3.20617E-06 None None None None I None 0 0 None 0 2.7818E-05 None 0 0 2.88824E-06 0 0
G/D 7058 Ig-55 15 rs72648964 0.1898 -0.038 0.468 D 0.583 0.632 None gnomAD-2.1.1 1.9129E-03 None None None None I None 9.23243E-03 1.27797E-03 None 1.67831E-02 0 None 3.9285E-04 None 0 4.80565E-04 2.68134E-03
G/D 7058 Ig-55 15 rs72648964 0.1898 -0.038 0.468 D 0.583 0.632 None gnomAD-3.1.2 3.3265E-03 None None None None I None 8.93029E-03 2.94734E-03 0 1.5265E-02 0 None 0 6.32911E-03 3.97012E-04 4.13907E-04 3.34288E-03
G/D 7058 Ig-55 15 rs72648964 0.1898 -0.038 0.468 D 0.583 0.632 None 1000 genomes 3.79393E-03 None None None None I None 1.36E-02 1.4E-03 None None 0 0 None None None 0 None
G/D 7058 Ig-55 15 rs72648964 0.1898 -0.038 0.468 D 0.583 0.632 None gnomAD-4.0.0 1.22915E-03 None None None None I None 9.09406E-03 1.76785E-03 None 1.67343E-02 0 None 0 6.77238E-03 3.89131E-04 4.94245E-04 2.48206E-03
G/R 7058 Ig-55 15 rs786205401 0.3005 -0.239 0.468 D 0.637 0.745 0.85594711346 gnomAD-2.1.1 3.19E-05 None None None None I None 1.14705E-04 0 None 0 0 None 0 None 0 0 0
G/R 7058 Ig-55 15 rs786205401 0.3005 -0.239 0.468 D 0.637 0.745 0.85594711346 gnomAD-3.1.2 1.31E-05 None None None None I None 4.83E-05 0 0 0 0 None 0 0 0 0 0
G/R 7058 Ig-55 15 rs786205401 0.3005 -0.239 0.468 D 0.637 0.745 0.85594711346 gnomAD-4.0.0 1.31447E-05 None None None None I None 4.82579E-05 0 None 0 0 None 0 0 0 0 0
G/S 7058 Ig-55 15 None 0.1544 None 0.004 D 0.33 0.546 0.451118754121 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
G/V 7151 Ig-56 15 None 0.5692 None 0.978 D 0.801 0.593 0.932949919686 gnomAD-4.0.0 1.60651E-06 None None None None N None 5.75043E-05 0 None 0 0 None 0 0 0 0 0
G/E 7244 Ig-57 15 None 0.2741 None 1.0 D 0.775 0.623 0.848142195229 gnomAD-4.0.0 5.47479E-06 None None None None N None 0 0 None 0 0 None 0 0 4.49792E-06 0 4.97133E-05
G/R 7433 Ig-59 15 rs2078568600 0.7395 None 1.0 D 0.841 0.665 0.872161657467 gnomAD-4.0.0 1.59222E-06 None None None None I None 0 0 None 0 0 None 0 0 2.8601E-06 0 0
G/V 7433 Ig-59 15 rs1362341150 0.8434 -0.336 1.0 D 0.834 0.763 0.950427629675 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 0 None 0 0 1.665E-04
G/V 7433 Ig-59 15 rs1362341150 0.8434 -0.336 1.0 D 0.834 0.763 0.950427629675 gnomAD-4.0.0 1.36875E-06 None None None None I None 0 0 None 0 0 None 0 0 0 0 3.31411E-05
G/V 7529 Ig-60 15 rs1194135723 0.7799 None 1.0 D 0.813 0.615 0.858599854351 gnomAD-4.0.0 1.59981E-06 None None None None N None 5.68117E-05 0 None 0 0 None 0 0 0 0 0
G/E 7623 Ig-61 16 rs752804619 0.3267 None 0.896 D 0.723 0.561 None 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
G/E 7623 Ig-61 16 rs752804619 0.3267 None 0.896 D 0.723 0.561 None gnomAD-4.0.0 3.10661E-06 None None None None N None 0 0 None 3.3873E-05 6.69733E-05 None 0 0 8.49909E-07 0 0
G/R 7623 Ig-61 16 rs2078297932 0.4236 None 0.059 D 0.517 0.678 0.649612440629 gnomAD-4.0.0 1.60242E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43972E-05 0
G/A 7716 Ig-62 15 rs751284978 0.4118 None 0.734 D 0.689 0.588 0.439870908748 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
G/A 7716 Ig-62 15 rs751284978 0.4118 None 0.734 D 0.689 0.588 0.439870908748 gnomAD-4.0.0 5.58747E-06 None None None None I None 0 0 None 0 0 None 0 0 7.63536E-06 0 0
G/C 7716 Ig-62 15 rs2154300766 0.7073 None 0.998 D 0.771 0.79 0.916960796233 gnomAD-4.0.0 1.59916E-06 None None None None I None 0 0 None 0 0 None 0 0 2.86719E-06 0 0
G/D 7716 Ig-62 15 None 0.4273 -0.464 0.041 D 0.573 0.544 0.358340041657 gnomAD-2.1.1 2.17E-05 None None None None I None 1.24554E-04 8.6E-05 None 0 0 None 0 None 0 0 0
G/D 7716 Ig-62 15 None 0.4273 -0.464 0.041 D 0.573 0.544 0.358340041657 gnomAD-3.1.2 8.55E-05 None None None None I None 2.89659E-04 6.56E-05 0 0 0 None 0 0 0 0 0
G/D 7716 Ig-62 15 None 0.4273 -0.464 0.041 D 0.573 0.544 0.358340041657 gnomAD-4.0.0 2.17306E-05 None None None None I None 3.34995E-04 1.00762E-04 None 0 0 None 0 0 2.5451E-06 0 1.60539E-05
G/V 7716 Ig-62 15 rs751284978 0.7255 -0.237 0.991 D 0.775 0.703 None gnomAD-2.1.1 1.63E-05 None None None None I None 0 0 None 0 0 None 0 None 0 3.59E-05 0
G/V 7716 Ig-62 15 rs751284978 0.7255 -0.237 0.991 D 0.775 0.703 None gnomAD-4.0.0 7.54165E-06 None None None None I None 0 0 None 0 0 None 0 0 9.90341E-06 0 0
G/R 7809 Ig-63 15 None 0.4127 None 1.0 D 0.845 0.621 0.879840086486 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 0 None 0 0 None 0 0 0 6.07533E-05 0
G/E 7903 Ig-64 15 rs1362459833 0.4008 -1.609 1.0 D 0.879 0.598 0.832462731495 gnomAD-2.1.1 4.04E-06 None None None None N None 6.47E-05 0 None 0 0 None 0 None 0 0 0
G/E 7903 Ig-64 15 rs1362459833 0.4008 -1.609 1.0 D 0.879 0.598 0.832462731495 gnomAD-4.0.0 6.84411E-07 None None None None N None 2.98954E-05 0 None 0 0 None 0 0 0 0 0
G/V 7903 Ig-64 15 None 0.7643 None 1.0 D 0.884 0.622 0.941585166729 gnomAD-4.0.0 6.84411E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99713E-07 0 0
G/A 7999 Ig-65 15 rs750389762 0.1913 -0.27 1.0 D 0.791 0.571 0.661045744637 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.88E-06 0
G/A 7999 Ig-65 15 rs750389762 0.1913 -0.27 1.0 D 0.791 0.571 0.661045744637 gnomAD-4.0.0 1.59148E-06 None None None None I None 0 0 None 0 0 None 0 2.41546E-04 0 0 0
G/E 8092 Ig-66 15 None 0.3068 None 0.085 D 0.526 0.515 0.577006569591 gnomAD-4.0.0 1.5952E-06 None None None None I None 0 0 None 0 0 None 0 0 2.86416E-06 0 0
G/E 8185 Ig-67 15 rs1199728726 0.3221 None 0.248 D 0.491 0.504 0.726976991548 gnomAD-4.0.0 1.02647E-05 None None None None I None 0 0 None 0 0 None 0 0 1.2594E-05 0 1.65706E-05
G/R 8185 Ig-67 15 None 0.2913 None 0.151 D 0.498 0.493 0.79385056502 gnomAD-4.0.0 1.59183E-06 None None None None I None 0 0 None 0 0 None 1.88352E-05 0 0 0 0
G/A 8278 Ig-68 15 rs778611558 0.4602 -0.587 0.896 D 0.342 0.55 0.528959857459 gnomAD-2.1.1 4.75E-05 None None None None I None 0 3.68794E-04 None 0 0 None 0 None 0 0 0
G/A 8278 Ig-68 15 rs778611558 0.4602 -0.587 0.896 D 0.342 0.55 0.528959857459 gnomAD-3.1.2 3.29E-05 None None None None I None 0 3.27397E-04 0 0 0 None 0 0 0 0 0
G/A 8278 Ig-68 15 rs778611558 0.4602 -0.587 0.896 D 0.342 0.55 0.528959857459 gnomAD-4.0.0 3.36686E-05 None None None None I None 0 3.39282E-04 None 0 0 None 0 2.24316E-04 4.79138E-06 0 8.55334E-05
G/R 8278 Ig-68 15 rs1406754899 0.6194 -0.726 1.0 D 0.811 0.596 0.871362720137 gnomAD-2.1.1 4.12E-06 None None None None I None 0 0 None 0 5.58E-05 None 0 None 0 0 0
G/R 8278 Ig-68 15 rs1406754899 0.6194 -0.726 1.0 D 0.811 0.596 0.871362720137 gnomAD-4.0.0 1.6128E-06 None None None None I None 0 0 None 0 2.77346E-05 None 0 0 0 0 0
G/A 8470 Ig-70 15 None 0.3924 None 0.998 D 0.681 0.681 0.641104024009 gnomAD-4.0.0 1.59189E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85971E-06 0 0
D/G 8564 Ig-71 16 rs770623711 0.0571 -0.471 None N 0.211 0.084 0.0297737177859 gnomAD-2.1.1 8.91E-06 None None None None I None 0 0 None 0 0 None 0 None 0 2.02E-05 0
D/G 8564 Ig-71 16 rs770623711 0.0571 -0.471 None N 0.211 0.084 0.0297737177859 gnomAD-4.0.0 2.07109E-06 None None None None I None 0 0 None 0 0 None 0 0 2.7158E-06 0 0
G/A 8657 Ig-72 15 rs766866317 0.2341 None 0.72 D 0.632 0.741 0.428747304603 gnomAD-4.0.0 4.8013E-06 None None None None N None 0 0 None 0 0 None 0 0 5.25002E-06 0 0
G/E 8657 Ig-72 15 rs766866317 0.3742 None 0.99 D 0.735 0.781 None gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
G/C 8750 Ig-73 15 rs757423560 0.4003 -0.635 0.983 D 0.781 0.622 0.850572185047 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 3.28E-05 None 0 0 0
G/C 8750 Ig-73 15 rs757423560 0.4003 -0.635 0.983 D 0.781 0.622 0.850572185047 gnomAD-4.0.0 6.84531E-07 None None None None I None 0 0 None 0 0 None 0 0 0 1.16077E-05 0
G/S 8750 Ig-73 15 None 0.1283 None 0.139 D 0.718 0.514 0.403609169532 gnomAD-4.0.0 6.84531E-07 None None None None I None 0 0 None 0 0 None 0 0 0 0 1.65761E-05
G/R 8844 Ig-74 15 None 0.3449 None 1.0 D 0.849 0.747 0.897360789159 gnomAD-4.0.0 1.20032E-06 None None None None N None 6.33473E-05 0 None 0 0 None 0 0 0 0 0
G/A 8940 Ig-75 15 None 0.2238 None 0.978 D 0.525 0.507 0.537588199982 gnomAD-4.0.0 1.67742E-06 None None None None N None 0 0 None 4.90244E-05 0 None 0 0 0 0 0
G/S 8940 Ig-75 15 rs201005813 0.127 -0.481 0.996 D 0.589 0.433 None gnomAD-2.1.1 3.11272E-04 None None None None N None 3.13888E-03 3.45E-05 None 0 0 None 3.9E-05 None 8.92E-05 2.02E-05 0
G/S 8940 Ig-75 15 rs201005813 0.127 -0.481 0.996 D 0.589 0.433 None gnomAD-3.1.2 9.08253E-04 None None None None N None 3.19257E-03 1.96644E-04 0 0 0 None 9.47E-05 0 2.94E-05 0 0
G/S 8940 Ig-75 15 rs201005813 0.127 -0.481 0.996 D 0.589 0.433 None 1000 genomes 5.99042E-04 None None None None N None 2.3E-03 0 None None 0 0 None None None 0 None
G/S 8940 Ig-75 15 rs201005813 0.127 -0.481 0.996 D 0.589 0.433 None gnomAD-4.0.0 1.87174E-04 None None None None N None 3.35949E-03 1.09581E-04 None 0 0 None 4.81603E-05 1.67112E-04 1.11874E-05 3.44693E-05 3.25924E-04
G/E 9033 Ig-76 15 None 0.3136 None 1.0 D 0.773 0.715 0.876181674074 gnomAD-4.0.0 1.59319E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86102E-06 0 0
G/R 9126 Ig-77 15 None 0.4395 None 1.0 D 0.851 0.758 0.877092428509 gnomAD-4.0.0 1.59228E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.43324E-05 0
G/R 9219 Ig-78 15 None 0.4869 None 1.0 D 0.904 0.876 0.899920238737 gnomAD-4.0.0 1.59135E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85843E-06 0 0
G/R 9315 Ig-79 15 None 0.6549 None 0.999 D 0.815 0.629 0.833005579354 gnomAD-4.0.0 1.59255E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.4353E-05 0
G/V 9315 Ig-79 15 rs1240808727 0.7 -0.495 0.999 D 0.795 0.734 0.917018942733 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 3.28E-05 None 0 0 0
G/V 9315 Ig-79 15 rs1240808727 0.7 -0.495 0.999 D 0.795 0.734 0.917018942733 gnomAD-4.0.0 1.59313E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.43674E-05 0
G/E 9411 Ig-80 15 rs563866126 0.5111 -0.613 1.0 None 0.843 0.608 0.872760564413 gnomAD-2.1.1 2.14E-05 None None None None N None 2.47995E-04 0 None 0 0 None 0 None 0 0 0
G/E 9411 Ig-80 15 rs563866126 0.5111 -0.613 1.0 None 0.843 0.608 0.872760564413 gnomAD-3.1.2 5.91E-05 None None None None N None 2.17234E-04 0 0 0 0 None 0 0 0 0 0
G/E 9411 Ig-80 15 rs563866126 0.5111 -0.613 1.0 None 0.843 0.608 0.872760564413 1000 genomes 1.99681E-04 None None None None N None 8E-04 0 None None 0 0 None None None 0 None
G/E 9411 Ig-80 15 rs563866126 0.5111 -0.613 1.0 None 0.843 0.608 0.872760564413 gnomAD-4.0.0 1.05335E-05 None None None None N None 1.86602E-04 0 None 0 0 None 0 0 1.69516E-06 0 1.60041E-05
G/E 9604 Ig-82 15 rs1469017379 0.3689 -0.569 1.0 None 0.801 0.704 0.809385375033 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.86E-06 0
G/E 9604 Ig-82 15 rs1469017379 0.3689 -0.569 1.0 None 0.801 0.704 0.809385375033 gnomAD-4.0.0 3.18275E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71729E-06 0 0
H/L 10092 Ig-86 15 None 0.7631 None 0.473 None 0.475 0.344 0.550759897685 gnomAD-4.0.0 1.59086E-06 None None None None N None 0 0 None 0 2.77239E-05 None 0 0 0 0 0
H/R 10092 Ig-86 15 rs1311702740 0.4765 None 0.002 None 0.205 0.194 0.226586394389 gnomAD-4.0.0 3.18172E-06 None None None None N None 0 0 None 0 0 None 0 0 5.715E-06 0 0
H/Y 10092 Ig-86 15 rs72650011 0.4275 1.114 0.006 None 0.247 0.416 None gnomAD-2.1.1 4.04131E-03 None None None None N None 2.8928E-04 5.08992E-04 None 1.1592E-03 0 None 2.71242E-03 None 8.83293E-03 6.01293E-03 2.93953E-03
H/Y 10092 Ig-86 15 rs72650011 0.4275 1.114 0.006 None 0.247 0.416 None gnomAD-3.1.2 3.6088E-03 None None None None N None 4.82928E-04 1.11286E-03 1.0989E-03 1.1534E-03 0 None 1.06543E-02 0 5.58659E-03 2.69263E-03 4.78469E-04
H/Y 10092 Ig-86 15 rs72650011 0.4275 1.114 0.006 None 0.247 0.416 None 1000 genomes 1.19808E-03 None None None None N None 8E-04 0 None None 0 2E-03 None None None 3.1E-03 None
H/Y 10092 Ig-86 15 rs72650011 0.4275 1.114 0.006 None 0.247 0.416 None Taylor (2011) Costa (2021) None ARVC het None None N Genetic analysis of TTN in 38 ARVC families, incomplete penetrance; subsequent identification of variant in desmoglein-2 (DSG2: c.152G>C) which co-segregates fully with condition in original affected individuals (n = 2) None None None None None None None None None None None
H/Y 10092 Ig-86 15 rs72650011 0.4275 1.114 0.006 None 0.247 0.416 None gnomAD-4.0.0 3.48525E-03 None None None None N None 4.26576E-04 7.66411E-04 None 8.7826E-04 4.45534E-05 None 9.03012E-03 1.64962E-03 3.84788E-03 2.29469E-03 2.89665E-03
G/A 13701 Ig-87 18 None 0.4515 None 1.0 D 0.766 0.879 0.661428323319 gnomAD-4.0.0 1.5921E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.43287E-05 0
K/N 13888 Ig-89 13 rs1459382951 0.7839 0.298 0.883 N 0.556 0.126 0.139678290688 gnomAD-2.1.1 4.38E-06 None None None None N None 0 3.1E-05 None 0 0 None 0 None 0 0 0
K/N 13888 Ig-89 13 rs1459382951 0.7839 0.298 0.883 N 0.556 0.126 0.139678290688 gnomAD-4.0.0 1.13721E-05 None None None None N None 0 1.66786E-04 None 0 0 None 0 0 0 0 0
K/R 13888 Ig-89 13 rs1324858653 0.1323 0.099 0.015 D 0.399 0.165 0.194818534648 gnomAD-4.0.0 1.62396E-06 None None None None N None 0 0 None 0 0 None 0 0 2.91279E-06 0 0
K/R 13979 Ig-90 15 rs1559980687 0.1984 None 0.997 N 0.667 0.225 0.262662153117 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.6E-05 None 0 None 0 0 0
K/R 13979 Ig-90 15 rs1559980687 0.1984 None 0.997 N 0.667 0.225 0.262662153117 gnomAD-4.0.0 1.59234E-06 None None None None N None 0 0 None 0 2.78102E-05 None 0 0 0 0 0
G/C 14156 Ig-92 15 rs878994668 0.7974 None 1.0 D 0.802 0.646 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
G/C 14156 Ig-92 15 rs878994668 0.7974 None 1.0 D 0.802 0.646 None gnomAD-4.0.0 1.85985E-06 None None None None N None 0 0 None 0 0 None 0 0 2.54351E-06 0 0
G/D 14156 Ig-92 15 rs574305853 0.6497 -1.281 1.0 D 0.789 0.691 None gnomAD-2.1.1 8.06E-06 None None None None N None 1.29249E-04 0 None 0 0 None 0 None 0 0 0
G/D 14156 Ig-92 15 rs574305853 0.6497 -1.281 1.0 D 0.789 0.691 None 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/D 14156 Ig-92 15 rs574305853 0.6497 -1.281 1.0 D 0.789 0.691 None gnomAD-4.0.0 1.85988E-06 None None None None N None 2.6723E-05 0 None 0 0 None 0 0 8.47844E-07 0 0
G/R 14156 Ig-92 15 None 0.6742 None 0.953 D 0.657 0.587 0.573134939963 gnomAD-4.0.0 1.36889E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79937E-06 0 0
G/S 14156 Ig-92 15 rs878994668 0.4524 -1.08 1.0 D 0.786 0.647 0.571763288708 gnomAD-2.1.1 8.06E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 1.66279E-04
G/S 14156 Ig-92 15 rs878994668 0.4524 -1.08 1.0 D 0.786 0.647 0.571763288708 gnomAD-4.0.0 2.05334E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.31938E-05 1.65761E-05
G/V 14156 Ig-92 15 rs574305853 0.9112 None 1.0 D 0.788 0.723 0.757253434703 gnomAD-4.0.0 6.8444E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99687E-07 0 0
G/R 14333 Ig-94 15 None 0.7017 None 0.999 N 0.682 0.402 0.542144099713 gnomAD-4.0.0 6.84402E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.1598E-05 0
G/S 14333 Ig-94 15 rs773910732 0.3595 -1.151 0.999 N 0.713 0.408 0.318828661733 gnomAD-2.1.1 8.05E-06 None None None None N None 6.46E-05 0 None 0 0 None 0 None 0 8.9E-06 0
G/S 14333 Ig-94 15 rs773910732 0.3595 -1.151 0.999 N 0.713 0.408 0.318828661733 gnomAD-4.0.0 2.05321E-06 None None None None N None 2.99168E-05 0 None 0 0 None 0 0 8.99664E-07 0 1.65722E-05
K/E 14422 Ig-95 15 rs1576692871 0.2694 None 0.999 D 0.747 0.37 0.390220360785 gnomAD-4.0.0 1.59251E-06 None None None None N None 0 2.28707E-05 None 0 0 None 0 0 0 0 0
K/N 14511 Ig-96 15 None 0.331 None 0.024 N 0.34 0.115 0.163833314356 gnomAD-4.0.0 1.6151E-06 None None None None N None 0 0 None 0 0 None 1.89645E-05 0 0 0 0
K/E 14600 Ig-97 15 rs543588487 0.3516 0.19 0.999 D 0.723 0.432 0.430579932962 gnomAD-2.1.1 1.44E-05 None None None None N None 1.6592E-04 0 None 0 0 None 0 None 0 0 0
K/E 14600 Ig-97 15 rs543588487 0.3516 0.19 0.999 D 0.723 0.432 0.430579932962 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
K/E 14600 Ig-97 15 rs543588487 0.3516 0.19 0.999 D 0.723 0.432 0.430579932962 1000 genomes 1.99681E-04 None None None None N None 8E-04 0 None None 0 0 None None None 0 None
K/E 14600 Ig-97 15 rs543588487 0.3516 0.19 0.999 D 0.723 0.432 0.430579932962 gnomAD-4.0.0 6.41722E-06 None None None None N None 8.44423E-05 0 None 0 0 None 0 0 0 0 0
K/N 14600 Ig-97 15 rs769967388 0.4729 None 1.0 N 0.739 0.335 0.237489013734 gnomAD-4.0.0 2.05463E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69944E-06 0 0
G/E 14778 Ig-99 14 rs1342716683 0.6521 -1.423 1.0 D 0.863 0.693 0.848431281886 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
G/E 14778 Ig-99 14 rs1342716683 0.6521 -1.423 1.0 D 0.863 0.693 0.848431281886 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/E 14778 Ig-99 14 rs1342716683 0.6521 -1.423 1.0 D 0.863 0.693 0.848431281886 gnomAD-4.0.0 1.02595E-05 None None None None N None 0 0 None 0 0 None 0 0 1.91648E-05 0 0
G/A 14867 Ig-100 15 rs1317888739 0.1637 -0.244 0.027 D 0.373 0.419 0.393623145366 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
G/A 14867 Ig-100 15 rs1317888739 0.1637 -0.244 0.027 D 0.373 0.419 0.393623145366 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/A 14867 Ig-100 15 rs1317888739 0.1637 -0.244 0.027 D 0.373 0.419 0.393623145366 gnomAD-4.0.0 6.58207E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47232E-05 0 0
G/E 14867 Ig-100 15 rs1317888739 0.1025 None None D 0.241 0.355 0.535679682109 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
G/R 14867 Ig-100 15 rs144848584 0.2415 -0.316 0.062 D 0.522 0.426 0.74873181118 gnomAD-2.1.1 1.41208E-04 None None None None N None 0 0 None 0 1.91205E-03 None 0 None 0 0 1.66445E-04
G/R 14867 Ig-100 15 rs144848584 0.2415 -0.316 0.062 D 0.522 0.426 0.74873181118 gnomAD-3.1.2 7.24E-05 None None None None N None 0 0 0 0 2.13841E-03 None 0 0 0 0 0
G/R 14867 Ig-100 15 rs144848584 0.2415 -0.316 0.062 D 0.522 0.426 0.74873181118 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 1E-03 0 None None None 0 None
G/R 14867 Ig-100 15 rs144848584 0.2415 -0.316 0.062 D 0.522 0.426 0.74873181118 gnomAD-4.0.0 1.28999E-04 None None None None N None 0 0 None 0 4.56826E-03 None 0 0 8.48151E-07 0 4.80831E-05
T/A 15045 Ig-102 15 None 0.1026 None 0.027 D 0.403 0.135 0.208816687407 gnomAD-4.0.0 1.5949E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86346E-06 0 0
Q/K 15222 Ig-104 15 rs2058168500 0.0812 None 0.101 N 0.365 0.17 0.148003135375 gnomAD-4.0.0 8.21724E-06 None None None None N None 0 0 None 0 0 None 0 0 1.07987E-05 0 0
K/N 15316 Ig-105 15 rs781445105 0.4378 0.141 1.0 N 0.694 0.376 0.311691414656 gnomAD-2.1.1 4.06E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.97E-06 0
K/N 15316 Ig-105 15 rs781445105 0.4378 0.141 1.0 N 0.694 0.376 0.311691414656 gnomAD-4.0.0 1.59663E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86691E-06 0 0
F/L 15405 Ig-106 15 rs779560487 0.9537 None 0.999 N 0.653 0.508 0.283761946502 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 2.88517E-04 0 None 0 0 0 0 0
F/L 15405 Ig-106 15 rs779560487 0.9537 None 0.999 N 0.653 0.508 0.283761946502 gnomAD-4.0.0 6.58415E-06 None None None None N None 0 0 None 2.88517E-04 0 None 0 0 0 0 0
G/V 15494 Ig-107 15 rs1433448268 0.8143 -0.054 1.0 D 0.812 0.798 0.929971040554 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.96E-06 0
G/V 15494 Ig-107 15 rs1433448268 0.8143 -0.054 1.0 D 0.812 0.798 0.929971040554 gnomAD-4.0.0 1.59492E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86454E-06 0 0
P/S 15977 Ig-109 10 None 0.6402 None 1.0 N 0.729 0.368 0.258779203287 gnomAD-4.0.0 1.59343E-06 None None None None I None 0 0 None 0 2.7784E-05 None 0 0 0 0 0
G/R 16969 Ig-111 15 rs878854314 0.6417 -0.441 0.999 D 0.717 0.7 0.70534225839 gnomAD-2.1.1 1.21E-05 None None None None I None 0 8.73E-05 None 0 0 None 0 None 0 0 0
G/R 16969 Ig-111 15 rs878854314 0.6417 -0.441 0.999 D 0.717 0.7 0.70534225839 gnomAD-4.0.0 1.15473E-05 None None None None I None 0 1.52781E-04 None 0 0 None 0 0 0 0 0
G/S 16969 Ig-111 15 rs878854314 0.2008 None 0.992 D 0.68 0.712 0.561485227407 gnomAD-4.0.0 3.18789E-06 None None None None I None 0 4.58127E-05 None 0 0 None 0 0 0 0 0
G/V 16969 Ig-111 15 None 0.8089 None 0.999 D 0.661 0.749 0.810219818459 gnomAD-4.0.0 3.42351E-06 None None None None I None 0 0 None 0 0 None 0 0 0 4.63994E-05 1.65876E-05
G/S 17262 Ig-112 12 rs2154198516 0.4318 None 1.0 D 0.809 0.759 0.579270068135 gnomAD-4.0.0 4.78417E-06 None None None None N None 0 0 None 0 0 None 0 0 0 4.30812E-05 0
G/E 17687 Ig-113 11 rs780672348 0.873 -0.811 1.0 D 0.869 0.667 0.891711145127 gnomAD-2.1.1 4.04E-06 None None None None I None 0 0 None 9.99E-05 0 None 0 None 0 0 0
G/E 17687 Ig-113 11 rs780672348 0.873 -0.811 1.0 D 0.869 0.667 0.891711145127 gnomAD-4.0.0 6.84476E-07 None None None None I None 0 0 None 3.82907E-05 0 None 0 0 0 0 0
G/V 17687 Ig-113 11 rs780672348 0.9777 -0.355 1.0 D 0.855 0.737 None gnomAD-2.1.1 2.15E-05 None None None None I None 0 0 None 0 0 None 0 None 0 4.72E-05 0
G/V 17687 Ig-113 11 rs780672348 0.9777 -0.355 1.0 D 0.855 0.737 None gnomAD-3.1.2 3.95E-05 None None None None I None 0 0 0 0 0 None 0 0 8.83E-05 0 0
G/V 17687 Ig-113 11 rs780672348 0.9777 -0.355 1.0 D 0.855 0.737 None gnomAD-4.0.0 3.53396E-05 None None None None I None 0 0 None 0 0 None 0 0 4.83301E-05 0 0
G/E 17981 Ig-114 14 None 0.5945 None 0.998 D 0.702 0.732 0.658189440816 gnomAD-4.0.0 1.59961E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.44063E-05 0
G/S 18393 Ig-115 12 rs2053610320 0.2571 None 1.0 D 0.855 0.628 0.696735452351 gnomAD-3.1.2 6.58E-06 None None None None I None 0 0 0 0 0 None 0 0 0 2.07125E-04 0
G/S 18393 Ig-115 12 rs2053610320 0.2571 None 1.0 D 0.855 0.628 0.696735452351 gnomAD-4.0.0 6.58068E-06 None None None None I None 0 0 None 0 0 None 0 0 0 2.07125E-04 0
G/E 18699 Ig-116 12 rs1060500533 0.3942 None 1.0 D 0.772 0.721 0.860385415557 gnomAD-3.1.2 2.63E-05 None None None None N None 0 2.62329E-04 0 0 0 None 0 0 0 0 0
G/E 19107 Ig-117 13 None 0.8517 None 1.0 D 0.877 0.685 0.794487406686 gnomAD-4.0.0 1.59254E-06 None None None None I None 0 0 None 0 2.78583E-05 None 0 0 0 0 0
G/S 19401 Ig-118 11 rs764852395 0.3857 -0.86 1.0 D 0.807 0.547 0.69826984155 gnomAD-2.1.1 1.61E-05 None None None None I None 0 2.91E-05 None 0 5.63E-05 None 0 None 0 1.78E-05 0
G/S 19401 Ig-118 11 rs764852395 0.3857 -0.86 1.0 D 0.807 0.547 0.69826984155 gnomAD-4.0.0 7.9614E-06 None None None None I None 0 2.28896E-05 None 0 2.78567E-05 None 0 0 8.57834E-06 0 0
G/V 19401 Ig-118 11 None 0.9552 None 1.0 D 0.821 0.603 0.882537766975 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
G/D 19801 Ig-119 12 rs202206216 0.6278 -1.117 1.0 D 0.893 0.684 0.727257869051 gnomAD-2.1.1 1.68147E-04 None None None None I None 0 3.4002E-04 None 0 0 None 7.84519E-04 None 0 7.84E-05 1.40885E-04
G/D 19801 Ig-119 12 rs202206216 0.6278 -1.117 1.0 D 0.893 0.684 0.727257869051 gnomAD-3.1.2 1.31517E-04 None None None None I None 2.41E-05 3.2774E-04 0 0 0 None 0 0 1.32361E-04 8.28844E-04 4.78469E-04
G/D 19801 Ig-119 12 rs202206216 0.6278 -1.117 1.0 D 0.893 0.684 0.727257869051 gnomAD-4.0.0 1.30167E-04 None None None None I None 1.33543E-05 3.336E-04 None 0 0 None 0 0 8.56205E-05 8.78561E-04 1.28107E-04
G/V 19801 Ig-119 12 None 0.9153 None 1.0 D 0.868 0.749 0.832652385027 gnomAD-4.0.0 6.8435E-07 None None None None I None 0 0 None 0 0 None 0 0 0 0 1.65678E-05
G/R 20093 Ig-120 14 rs1229011306 0.7977 0.048 1.0 D 0.832 0.693 0.749776601627 gnomAD-2.1.1 1.28E-05 None None None None I None 0 0 None 0 5.72E-05 None 7.48E-05 None 0 0 0
G/R 20093 Ig-120 14 rs1229011306 0.7977 0.048 1.0 D 0.832 0.693 0.749776601627 gnomAD-4.0.0 4.89598E-06 None None None None I None 0 0 None 0 2.78288E-05 None 0 0 0 3.00336E-05 0
G/A 20491 Ig-121 13 None 0.8001 None 1.0 D 0.801 0.748 0.712639473574 gnomAD-4.0.0 6.98714E-07 None None None None N None 0 0 None 0 0 None 0 0 9.11506E-07 0 0
G/R 20491 Ig-121 13 None 0.9388 None 1.0 D 0.907 0.759 0.893286138527 gnomAD-4.0.0 6.98643E-07 None None None None N None 0 0 None 0 0 None 0 0 9.11411E-07 0 0
G/S 20491 Ig-121 13 rs1341970631 0.5646 -0.884 1.0 D 0.877 0.733 0.708053928561 gnomAD-2.1.1 4.49E-06 None None None None N None 0 3.16E-05 None 0 0 None 0 None 0 0 0
G/S 20491 Ig-121 13 rs1341970631 0.5646 -0.884 1.0 D 0.877 0.733 0.708053928561 gnomAD-4.0.0 6.98643E-07 None None None None N None 0 2.38755E-05 None 0 0 None 0 0 0 0 0
G/A 20784 Ig-122 16 rs1429834760 0.6788 -0.604 0.999 D 0.683 0.753 0.60864743834 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.91E-06 0
G/V 21189 Ig-123 13 None 0.9201 None 0.999 D 0.834 0.823 0.879814937172 gnomAD-4.0.0 1.36963E-06 None None None None I None 0 0 None 0 0 None 0 0 1.8E-06 0 0
G/A 21481 Ig-124 13 None 0.7144 None 1.0 D 0.784 0.571 0.649053977314 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
G/R 21481 Ig-124 13 rs1341234616 0.762 -0.579 1.0 D 0.89 0.547 0.739304310542 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.94E-06 0
G/R 21481 Ig-124 13 rs1341234616 0.762 -0.579 1.0 D 0.89 0.547 0.739304310542 gnomAD-4.0.0 1.02826E-05 None None None None N None 0 0 None 0 0 None 0 0 1.26076E-05 0 1.6597E-05
G/A 21878 Ig-125 13 rs767001973 0.7868 -0.425 1.0 D 0.775 0.803 0.694693139321 gnomAD-2.1.1 4.06E-06 None None None None I None 0 0 None 0 0 None 0 None 0 9.01E-06 0
G/A 21878 Ig-125 13 rs767001973 0.7868 -0.425 1.0 D 0.775 0.803 0.694693139321 gnomAD-4.0.0 9.59137E-06 None None None None I None 0 0 None 0 2.53408E-05 None 0 0 1.17046E-05 0 0
N/K 22565 Ig-127 6 None 0.245 None 0.946 N 0.49 0.258 0.170165803431 gnomAD-4.0.0 6.87856E-07 None None None None I None 0 0 None 0 0 None 0 1.74764E-04 0 0 0
G/E 22961 Ig-128 12 rs1244248488 0.7529 -0.67 0.103 D 0.576 0.442 0.599723285281 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/E 22961 Ig-128 12 rs1244248488 0.7529 -0.67 0.103 D 0.576 0.442 0.599723285281 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/E 22961 Ig-128 12 rs1244248488 0.7529 -0.67 0.103 D 0.576 0.442 0.599723285281 gnomAD-4.0.0 6.48783E-06 None None None None N None 0 0 None 0 0 None 0 0 9.71926E-06 0 2.87604E-05
G/S 23648 Ig-130 12 rs1709611603 0.2789 None 1.0 D 0.857 0.927 0.616551729481 gnomAD-4.0.0 1.59384E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86149E-06 0 0
G/V 23648 Ig-130 12 rs1226411676 0.8707 -0.384 1.0 D 0.85 0.897 0.811166881841 gnomAD-2.1.1 4.06E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.97E-06 0
G/V 23648 Ig-130 12 rs1226411676 0.8707 -0.384 1.0 D 0.85 0.897 0.811166881841 gnomAD-4.0.0 4.10804E-06 None None None None N None 0 2.24075E-05 None 0 0 None 0 1.73551E-04 3.59908E-06 0 0
G/D 24044 Ig-131 16 rs794729491 0.6386 -0.737 1.0 D 0.862 0.783 0.66969415844 gnomAD-2.1.1 4.03E-06 None None None None I None 6.47E-05 0 None 0 0 None 0 None 0 0 0
G/D 24044 Ig-131 16 rs794729491 0.6386 -0.737 1.0 D 0.862 0.783 0.66969415844 gnomAD-4.0.0 1.36877E-06 None None None None I None 5.97729E-05 0 None 0 0 None 0 0 0 0 0
G/S 24044 Ig-131 16 None 0.3021 None 1.0 D 0.83 0.824 0.635004642788 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
G/D 24730 Ig-133 15 rs781046518 0.534 -0.42 1.0 D 0.867 0.627 0.673759014288 gnomAD-3.1.2 1.32E-05 None None None None I None 0 1.31027E-04 0 0 0 None 0 0 0 0 0
G/D 24730 Ig-133 15 rs781046518 0.534 -0.42 1.0 D 0.867 0.627 0.673759014288 gnomAD-4.0.0 6.81912E-06 None None None None I None 2.6713E-05 6.672E-05 None 0 2.23614E-05 None 0 0 1.69555E-06 0 3.20379E-05
G/V 24730 Ig-133 15 None 0.8775 None 1.0 D 0.845 0.714 0.950035276279 gnomAD-4.0.0 6.84434E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99628E-07 0 0
G/D 25126 Ig-134 16 rs776574546 0.664 -0.807 0.898 D 0.565 0.684 0.600903938228 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
G/D 25126 Ig-134 16 rs776574546 0.664 -0.807 0.898 D 0.565 0.684 0.600903938228 gnomAD-4.0.0 1.36859E-06 None None None None N None 2.99007E-05 0 None 0 0 None 0 0 8.99578E-07 0 0
G/S 25126 Ig-134 16 rs761767394 0.3134 -0.655 1.0 D 0.817 0.725 0.654939258183 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
G/S 25126 Ig-134 16 rs761767394 0.3134 -0.655 1.0 D 0.817 0.725 0.654939258183 gnomAD-4.0.0 4.77514E-06 None None None None N None 0 0 None 0 0 None 0 0 8.578E-06 0 0
G/D 25525 Ig-135 12 rs1428374737 0.6741 -0.583 0.999 D 0.815 0.738 0.66885242914 gnomAD-2.1.1 4.04E-06 None None None None I None 0 0 None 0 5.62E-05 None 0 None 0 0 0
G/D 25525 Ig-135 12 rs1428374737 0.6741 -0.583 0.999 D 0.815 0.738 0.66885242914 gnomAD-4.0.0 1.5928E-06 None None None None I None 0 0 None 0 2.7835E-05 None 0 0 0 0 0
G/S 25525 Ig-135 12 None 0.1761 None 0.992 D 0.755 0.862 0.630510301675 gnomAD-4.0.0 1.59282E-06 None None None None I None 0 0 None 0 0 None 0 0 0 0 3.02755E-05
G/V 25525 Ig-135 12 rs1428374737 0.7116 None 0.999 D 0.785 0.745 0.954238724321 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
G/V 25525 Ig-135 12 rs1428374737 0.7116 None 0.999 D 0.785 0.745 0.954238724321 gnomAD-4.0.0 6.57869E-06 None None None None I None 2.41441E-05 0 None 0 0 None 0 0 0 0 0
G/S 25812 Ig-136 15 None 0.2332 None 1.0 D 0.875 0.626 0.649944800967 gnomAD-4.0.0 1.59228E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85972E-06 0 0
G/E 26208 Ig-137 16 rs778591122 0.7664 -1.025 1.0 D 0.837 0.831 0.834138542939 gnomAD-2.1.1 4.04E-06 None None None None I None 0 0 None 0 5.61E-05 None 0 None 0 0 0
G/E 26208 Ig-137 16 rs778591122 0.7664 -1.025 1.0 D 0.837 0.831 0.834138542939 gnomAD-4.0.0 1.59403E-06 None None None None I None 0 0 None 0 2.7804E-05 None 0 0 0 0 0
G/R 26208 Ig-137 16 None 0.7271 None 1.0 D 0.855 0.862 0.885076543134 gnomAD-4.0.0 1.59412E-06 None None None None I None 5.67215E-05 0 None 0 0 None 0 0 0 0 0
G/V 26607 Ig-138 14 None 0.8772 None 1.0 D 0.809 0.822 0.855096733437 gnomAD-4.0.0 1.59149E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85878E-06 0 0
G/A 26894 Ig-139 15 rs928657933 0.3441 None 0.928 D 0.621 0.836 0.634485840324 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
G/A 26894 Ig-139 15 rs928657933 0.3441 None 0.928 D 0.621 0.836 0.634485840324 gnomAD-4.0.0 1.85971E-06 None None None None I None 2.67194E-05 0 None 0 0 None 0 0 0 0 1.6021E-05
G/E 26894 Ig-139 15 None 0.4323 None 0.978 D 0.79 0.774 0.77413480687 gnomAD-4.0.0 6.84418E-07 None None None None I None 0 0 None 0 0 None 1.87378E-05 0 0 0 0
G/A 27290 Ig-140 13 rs200240728 0.4428 -0.594 1.0 D 0.723 0.603 None gnomAD-2.1.1 9.66E-05 None None None None I None 0 1.13129E-04 None 0 0 None 2.28758E-04 None 0 1.25404E-04 0
G/A 27290 Ig-140 13 rs200240728 0.4428 -0.594 1.0 D 0.723 0.603 None gnomAD-3.1.2 1.05175E-04 None None None None I None 0 6.55E-05 0 0 0 None 0 0 2.05834E-04 2.07125E-04 0
G/A 27290 Ig-140 13 rs200240728 0.4428 -0.594 1.0 D 0.723 0.603 None 1000 genomes 1.99681E-04 None None None None I None 0 0 None None 0 0 None None None 1E-03 None
G/A 27290 Ig-140 13 rs200240728 0.4428 -0.594 1.0 D 0.723 0.603 None gnomAD-4.0.0 7.68625E-05 None None None None I None 3.9984E-05 9.999E-05 None 0 0 None 0 8.2481E-04 6.78093E-05 2.96449E-04 4.80169E-05
G/R 27290 Ig-140 13 rs786205377 0.4455 None 1.0 D 0.828 0.624 0.845202876592 gnomAD-4.0.0 3.60097E-06 None None None None I None 0 0 None 0 0 None 0 0 3.9375E-06 0 0
R/G 27977 Ig-142 15 rs1408743054 0.0477 -0.059 None N 0.258 0.142 0.0762999501168 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.94E-06 0
R/G 27977 Ig-142 15 rs1408743054 0.0477 -0.059 None N 0.258 0.142 0.0762999501168 gnomAD-4.0.0 1.59389E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86116E-06 0 0
R/T 27977 Ig-142 15 rs1703931873 0.1484 None None N 0.287 0.113 0.267299060538 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 0 2.06868E-04 0
R/T 27977 Ig-142 15 rs1703931873 0.1484 None None N 0.287 0.113 0.267299060538 gnomAD-4.0.0 6.57341E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.06868E-04 0
G/E 28372 Ig-143 15 rs190721759 0.6202 -0.759 1.0 D 0.859 0.818 None gnomAD-2.1.1 1.28618E-04 None None None None I None 8.27E-05 0 None 0 0 None 3.27E-05 None 0 2.42665E-04 2.80978E-04
G/E 28372 Ig-143 15 rs190721759 0.6202 -0.759 1.0 D 0.859 0.818 None gnomAD-3.1.2 5.92E-05 None None None None I None 0 0 0 0 0 None 0 0 1.3231E-04 0 0
G/E 28372 Ig-143 15 rs190721759 0.6202 -0.759 1.0 D 0.859 0.818 None 1000 genomes 1.99681E-04 None None None None I None 0 0 None None 0 1E-03 None None None 0 None
G/E 28372 Ig-143 15 rs190721759 0.6202 -0.759 1.0 D 0.859 0.818 None gnomAD-4.0.0 3.24063E-04 None None None None I None 0 0 None 0 0 None 0 0 4.2549E-04 1.09789E-05 3.20092E-04
G/R 28372 Ig-143 15 rs1323161898 0.5019 -0.282 1.0 D 0.873 0.852 0.900311829425 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 3.27E-05 None 0 0 0
G/R 28372 Ig-143 15 rs1323161898 0.5019 -0.282 1.0 D 0.873 0.852 0.900311829425 gnomAD-4.0.0 1.59109E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.43279E-05 0
G/A 28769 Ig-144 15 rs756222422 0.4426 -0.281 1.0 D 0.765 0.557 0.617365057919 gnomAD-2.1.1 8.12E-06 None None None None I None 0 5.81E-05 None 0 0 None 0 None 0 0 0
G/A 28769 Ig-144 15 rs756222422 0.4426 -0.281 1.0 D 0.765 0.557 0.617365057919 gnomAD-4.0.0 1.59946E-06 None None None None I None 0 2.28864E-05 None 0 0 None 0 0 0 0 0
G/D 28769 Ig-144 15 rs756222422 0.5012 -0.735 1.0 D 0.852 0.567 0.651316673006 gnomAD-2.1.1 4.06E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.9E-06 0
G/D 28769 Ig-144 15 rs756222422 0.5012 -0.735 1.0 D 0.852 0.567 0.651316673006 gnomAD-4.0.0 1.59946E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85999E-06 0 0
G/D 29059 Ig-145 15 None 0.5442 None 1.0 D 0.883 0.642 0.742091629371 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
G/D 29455 Ig-146 12 rs769764408 0.618 -0.841 0.998 D 0.812 0.678 0.697169835009 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
G/D 29455 Ig-146 12 rs769764408 0.618 -0.841 0.998 D 0.812 0.678 0.697169835009 gnomAD-4.0.0 1.59123E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85801E-06 0 0
G/D 29854 Ig-147 13 rs1307295832 0.6912 -0.984 1.0 D 0.88 0.778 0.615685111792 gnomAD-2.1.1 4.13E-06 None None None None I None 6.47E-05 0 None 0 0 None 0 None 0 0 0
G/D 29854 Ig-147 13 rs1307295832 0.6912 -0.984 1.0 D 0.88 0.778 0.615685111792 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 29854 Ig-147 13 rs1307295832 0.6912 -0.984 1.0 D 0.88 0.778 0.615685111792 gnomAD-4.0.0 6.2402E-06 None None None None I None 1.33579E-05 0 None 0 0 None 0 0 7.64587E-06 0 0
G/E 30146 Ig-148 15 rs758618786 0.8846 -1.46 1.0 D 0.845 0.751 0.862107692015 gnomAD-2.1.1 4.04E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.93E-06 0
G/R 30146 Ig-148 15 rs766581267 0.9131 -0.715 1.0 D 0.866 0.751 0.90245311394 gnomAD-2.1.1 4.04E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.93E-06 0
G/R 30146 Ig-148 15 rs766581267 0.9131 -0.715 1.0 D 0.866 0.751 0.90245311394 gnomAD-4.0.0 6.17608E-06 None None None None I None 0 0 None 0 0 None 0 0 7.21781E-06 0 1.66218E-05
G/E 30541 Ig-149 10 None 0.5437 None 1.0 D 0.869 0.682 0.766529015816 gnomAD-4.0.0 2.05288E-06 None None None None I None 0 0 None 0 0 None 0 0 2.69868E-06 0 0
G/R 30541 Ig-149 10 rs200854704 0.4434 -0.19 1.0 D 0.873 0.693 0.837526494843 gnomAD-2.1.1 7.86E-05 None None None None I None 1.24049E-04 2.83E-05 None 0 1.02533E-04 None 6.54E-05 None 0 1.01752E-04 1.40528E-04
G/R 30541 Ig-149 10 rs200854704 0.4434 -0.19 1.0 D 0.873 0.693 0.837526494843 gnomAD-3.1.2 1.05208E-04 None None None None I None 2.42E-05 1.96721E-04 0 0 1.92827E-04 None 0 0 1.47011E-04 2.07469E-04 0
G/R 30541 Ig-149 10 rs200854704 0.4434 -0.19 1.0 D 0.873 0.693 0.837526494843 gnomAD-4.0.0 1.36976E-04 None None None None I None 4.0078E-05 1.00053E-04 None 0 8.91424E-05 None 0 0 1.68692E-04 5.49137E-05 6.40471E-05
G/E 30940 Ig-150 14 rs770455196 0.7738 -0.928 1.0 D 0.879 0.86 0.881708220942 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
G/E 30940 Ig-150 14 rs770455196 0.7738 -0.928 1.0 D 0.879 0.86 0.881708220942 gnomAD-4.0.0 1.36946E-06 None None None None I None 2.98811E-05 0 None 0 0 None 0 0 8.99462E-07 0 0
G/D 31630 Ig-152 10 rs576480657 0.8696 -0.661 1.0 D 0.88 0.76 0.727109542286 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
G/D 31630 Ig-152 10 rs576480657 0.8696 -0.661 1.0 D 0.88 0.76 0.727109542286 gnomAD-3.1.2 6.57E-06 None None None None I None 2.41E-05 0 0 0 0 None 0 0 0 0 0
G/D 31630 Ig-152 10 rs576480657 0.8696 -0.661 1.0 D 0.88 0.76 0.727109542286 1000 genomes 1.99681E-04 None None None None I None 8E-04 0 None None 0 0 None None None 0 None
G/D 31630 Ig-152 10 rs576480657 0.8696 -0.661 1.0 D 0.88 0.76 0.727109542286 gnomAD-4.0.0 6.56754E-06 None None None None I None 2.40662E-05 0 None 0 0 None 0 0 0 0 0
G/R 31630 Ig-152 10 rs1697172805 0.8941 None 1.0 D 0.882 0.824 0.911856448755 gnomAD-4.0.0 1.59151E-06 None None None None I None 0 0 None 0 2.77577E-05 None 0 0 0 0 0
G/R 32029 Ig-153 13 rs897097275 0.8251 None 1.0 D 0.891 0.731 0.843450473141 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/R 32029 Ig-153 13 rs897097275 0.8251 None 1.0 D 0.891 0.731 0.843450473141 gnomAD-4.0.0 1.59182E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85941E-06 0 0
G/D 32321 Ig-154 15 rs1421966339 0.6807 -0.946 1.0 D 0.879 0.736 0.607940206691 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
G/D 32321 Ig-154 15 rs1421966339 0.6807 -0.946 1.0 D 0.879 0.736 0.607940206691 gnomAD-4.0.0 1.59212E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43336E-05 0
G/D 33115 Ig-156 15 rs879247634 0.6903 -1.137 1.0 D 0.863 0.636 None gnomAD-2.1.1 7.16E-06 None None None None N None 8.27E-05 0 None 0 0 None 0 None 0 0 0
G/D 33115 Ig-156 15 rs879247634 0.6903 -1.137 1.0 D 0.863 0.636 None gnomAD-3.1.2 2.63E-05 None None None None N None 7.24E-05 0 0 0 0 None 0 0 1.47E-05 0 0
G/D 33115 Ig-156 15 rs879247634 0.6903 -1.137 1.0 D 0.863 0.636 None gnomAD-4.0.0 7.69039E-06 None None None None N None 6.77002E-05 0 None 0 0 None 0 0 4.78852E-06 0 0
G/D 33211 Ig-157 9 None 0.5638 None 1.0 D 0.892 0.746 0.708922172023 gnomAD-4.0.0 1.59146E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85851E-06 0 0
G/R 33211 Ig-157 9 None 0.8333 None 1.0 D 0.875 0.791 0.907074024549 gnomAD-4.0.0 1.36849E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79899E-06 0 0
G/S 33211 Ig-157 9 rs1553504771 0.3889 None 1.0 D 0.868 0.762 0.643721901085 gnomAD-4.0.0 3.42122E-06 None None None None N None 0 0 None 0 0 None 0 0 0 5.79724E-05 0
Q/H 33510 Ig-158 15 rs1017116243 0.233 None None N 0.218 0.111 0.207176502487 gnomAD-4.0.0 6.84478E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99675E-06 0 0
Q/R 33510 Ig-158 15 None 0.1032 None None N 0.209 0.14 0.197625483188 gnomAD-4.0.0 1.59263E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.4346E-05 0
G/D 33610 Ig-159 15 rs373754986 0.5582 -0.635 1.0 D 0.867 0.854 None gnomAD-2.1.1 6.81E-05 None None None None N None 0 4.53258E-04 None 0 5.13E-05 None 0 None 0 1.57E-05 0
G/D 33610 Ig-159 15 rs373754986 0.5582 -0.635 1.0 D 0.867 0.854 None gnomAD-3.1.2 2.04063E-04 None None None None N None 0 1.96721E-03 0 0 0 None 0 0 1.47E-05 0 0
G/D 33610 Ig-159 15 rs373754986 0.5582 -0.635 1.0 D 0.867 0.854 None gnomAD-4.0.0 4.03101E-05 None None None None N None 0 7.83882E-04 None 0 2.22965E-05 None 0 1.64474E-04 1.35639E-05 0 0
G/V 33610 Ig-159 15 rs373754986 0.9656 -0.257 1.0 D 0.835 0.859 0.756087935573 gnomAD-2.1.1 1.21E-05 None None None None N None 0 8.71E-05 None 0 0 None 0 None 0 0 0
G/V 33610 Ig-159 15 rs373754986 0.9656 -0.257 1.0 D 0.835 0.859 0.756087935573 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
G/V 33610 Ig-159 15 rs373754986 0.9656 -0.257 1.0 D 0.835 0.859 0.756087935573 gnomAD-4.0.0 2.48062E-06 None None None None N None 0 6.67111E-05 None 0 0 None 0 0 0 0 0
G/E 34150 Ig-160 14 rs768162354 0.3234 -0.874 0.924 D 0.797 0.779 0.675528658969 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 5.56E-05 None 0 None 0 0 0
G/E 34150 Ig-160 14 rs768162354 0.3234 -0.874 0.924 D 0.797 0.779 0.675528658969 gnomAD-4.0.0 2.05247E-06 None None None None N None 0 0 None 0 5.03804E-05 None 0 0 8.99418E-07 0 0
G/R 34272 Ig-161 15 rs794729562 0.6297 -0.272 1.0 D 0.84 0.866 0.866886302678 gnomAD-2.1.1 8.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.77E-05 0
G/R 34272 Ig-161 15 rs794729562 0.6297 -0.272 1.0 D 0.84 0.866 0.866886302678 gnomAD-4.0.0 1.36831E-05 None None None None N None 0 0 None 0 0 None 0 0 1.70889E-05 0 1.65645E-05
G/S 34272 Ig-161 15 rs794729562 0.2455 None 0.999 D 0.827 0.863 0.654939258183 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/S 34272 Ig-161 15 rs794729562 0.2455 None 0.999 D 0.827 0.863 0.654939258183 gnomAD-4.0.0 6.57073E-06 None None None None N None 2.41301E-05 0 None 0 0 None 0 0 0 0 0
G/D 34956 Ig-163 15 rs145748940 0.5949 -3.034 1.0 D 0.891 0.832 None gnomAD-2.1.1 1.2E-05 None None None None N None 1.93748E-04 0 None 0 0 None 0 None 0 0 0
G/D 34956 Ig-163 15 rs145748940 0.5949 -3.034 1.0 D 0.891 0.832 None 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
G/D 34956 Ig-163 15 rs145748940 0.5949 -3.034 1.0 D 0.891 0.832 None 1000 genomes 5.99042E-04 None None None None N None 2.3E-03 0 None None 0 0 None None None 0 None
G/D 34956 Ig-163 15 rs145748940 0.5949 -3.034 1.0 D 0.891 0.832 None gnomAD-4.0.0 3.71765E-06 None None None None N None 3.99861E-05 0 None 0 0 None 0 0 1.69511E-06 0 1.60031E-05
G/S 34956 Ig-163 15 None 0.2489 None 1.0 D 0.858 0.835 0.6296786883 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
G/S 35143 Ig-164 15 rs1441874026 0.2684 None 1.0 D 0.857 0.891 0.620928753958 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/S 35143 Ig-164 15 rs1441874026 0.2684 None 1.0 D 0.857 0.891 0.620928753958 gnomAD-4.0.0 6.57194E-06 None None None None N None 2.41371E-05 0 None 0 0 None 0 0 0 0 0
I/M 35300 Ig-165 15 rs769262485 0.0819 -0.339 0.045 N 0.286 0.08 0.0846915920261 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
D/E 35434 Ig-166 15 rs1371891927 0.1879 0.204 None N 0.193 0.086 0.0551355673512 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
D/E 35434 Ig-166 15 rs1371891927 0.1879 0.204 None N 0.193 0.086 0.0551355673512 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/E 35434 Ig-166 15 rs1371891927 0.1879 0.204 None N 0.193 0.086 0.0551355673512 gnomAD-4.0.0 6.5703E-06 None None None None N None 2.41289E-05 0 None 0 0 None 0 0 0 0 0
D/G 35434 Ig-166 15 rs1362199779 0.121 0.066 0.037 N 0.473 0.105 0.0716867268079 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
D/G 35434 Ig-166 15 rs1362199779 0.121 0.066 0.037 N 0.473 0.105 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
D/G 35434 Ig-166 15 rs1362199779 0.121 0.066 0.037 N 0.473 0.105 0.0716867268079 gnomAD-4.0.0 3.71785E-06 None None None None N None 0 0 None 0 0 None 0 0 5.08533E-06 0 0
D/H 35434 Ig-166 15 rs770168784 0.259 0.016 0.395 N 0.591 0.173 0.226586394389 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
D/H 35434 Ig-166 15 rs770168784 0.259 0.016 0.395 N 0.591 0.173 0.226586394389 gnomAD-4.0.0 6.84185E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99431E-07 0 0
D/Y 35434 Ig-166 15 None 0.221 None 0.801 D 0.614 0.408 0.611906392123 gnomAD-4.0.0 6.84185E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99431E-07 0 0
G/A 35621 Ig-167 15 None 0.313 None 0.974 N 0.523 0.588 0.541962755691 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 35621 Ig-167 15 None 0.2291 None 1.0 N 0.877 0.629 0.645408611234 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 35716 Ig-168 15 None 0.6177 None 1.0 D 0.898 0.875 0.896683022151 gnomAD-4.0.0 1.59418E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86256E-06 0 0
G/V 35911 Ig-169 15 rs1194972445 0.9191 None 0.998 D 0.841 0.842 0.936624429266 gnomAD-3.1.2 6.57E-06 None None None -0.442(OBSL1) -0.312(OBSCN) N None 0 0 0 0 0 None 9.42E-05 0 0 0 0
G/V 35911 Ig-169 15 rs1194972445 0.9191 None 0.998 D 0.841 0.842 0.936624429266 gnomAD-4.0.0 6.57358E-06 None None None -0.442(OBSL1) -0.312(OBSCN) N None 0 0 None 0 0 None 9.42152E-05 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.