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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
L/V | 65 | Ig-1 | 60 | None | 0.4066 | None | 0.998 | D | 0.679 | 0.498 | 0.449669948863 | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | -0.757(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66354E-05 |
L/S | 161 | Ig-2 | 58 | None | 0.9988 | None | 1.0 | D | 0.887 | 0.876 | 0.919668010579 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | -0.257(TCAP) | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
L/F | 1000 | Ig-3 | 58 | rs140953779 | 0.9176 | -1.831 | 0.999 | D | 0.781 | 0.492 | None | gnomAD-2.1.1 | 3.54E-05 | None | None | None | None | N | None | 4.00705E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
L/F | 1000 | Ig-3 | 58 | rs140953779 | 0.9176 | -1.831 | 0.999 | D | 0.781 | 0.492 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 9.66E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
L/F | 1000 | Ig-3 | 58 | rs140953779 | 0.9176 | -1.831 | 0.999 | D | 0.781 | 0.492 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
L/F | 1000 | Ig-3 | 58 | rs140953779 | 0.9176 | -1.831 | 0.999 | D | 0.781 | 0.492 | None | gnomAD-4.0.0 | 1.40848E-05 | None | None | None | None | N | None | 1.68799E-04 | 1.69388E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
L/M | 1141 | Ig-4 | 60 | None | 0.601 | None | 1.0 | D | 0.785 | 0.536 | 0.715311462823 | 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 |
L/V | 1515 | Ig-6 | 59 | None | 0.3643 | None | 0.984 | D | 0.673 | 0.547 | 0.859270295341 | gnomAD-4.0.0 | 6.8419E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9936E-07 | 0 | 0 |
L/F | 1615 | Ig-7 | 60 | rs777977684 | 0.4732 | -1.652 | 0.121 | D | 0.423 | 0.367 | None | gnomAD-2.1.1 | 4E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.85E-06 | 0 |
L/F | 1615 | Ig-7 | 60 | rs777977684 | 0.4732 | -1.652 | 0.121 | D | 0.423 | 0.367 | None | gnomAD-4.0.0 | 6.1572E-06 | None | None | None | None | N | None | 2.98775E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19453E-06 | 0 | 0 |
L/Q | 1897 | Ig-9 | 57 | rs1299766514 | 0.9938 | -2.207 | 1.0 | D | 0.902 | 0.69 | 0.896200649061 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
L/Q | 1897 | Ig-9 | 57 | rs1299766514 | 0.9938 | -2.207 | 1.0 | D | 0.902 | 0.69 | 0.896200649061 | gnomAD-4.0.0 | 1.5905E-06 | None | None | None | None | N | None | 0 | 2.28634E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
L/F | 2136 | Ig-10 | 59 | rs761940711 | 0.7184 | -1.444 | 1.0 | D | 0.819 | 0.622 | 0.826486407297 | 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 |
L/F | 2136 | Ig-10 | 59 | rs761940711 | 0.7184 | -1.444 | 1.0 | D | 0.819 | 0.622 | 0.826486407297 | 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 |
L/F | 2136 | Ig-10 | 59 | rs761940711 | 0.7184 | -1.444 | 1.0 | D | 0.819 | 0.622 | 0.826486407297 | gnomAD-4.0.0 | 2.47854E-06 | None | None | None | None | N | None | 4.00588E-05 | 0 | None | 0 | 0 | None | 1.56226E-05 | 0 | 0 | 0 | 0 |
L/F | 2231 | Ig-11 | 58 | None | 0.503 | None | 0.142 | D | 0.471 | 0.36 | 0.370240404367 | gnomAD-4.0.0 | 1.59083E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85691E-06 | 0 | 0 |
L/M | 2412 | Ig-13 | 57 | None | 0.5388 | None | 1.0 | D | 0.787 | 0.607 | 0.941346318489 | 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 |
L/R | 2412 | Ig-13 | 57 | None | 0.9949 | None | 1.0 | D | 0.907 | 0.962 | 0.95519357536 | gnomAD-4.0.0 | 1.59052E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8566E-06 | 0 | 0 |
L/F | 2589 | Ig-15 | 57 | rs372080212 | 0.7111 | -1.617 | 1.0 | D | 0.827 | 0.599 | 0.810717827077 | gnomAD-2.1.1 | 5.33E-05 | None | None | None | None | N | None | 4.44444E-04 | 8.5E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.39626E-04 |
L/F | 2589 | Ig-15 | 57 | rs372080212 | 0.7111 | -1.617 | 1.0 | D | 0.827 | 0.599 | 0.810717827077 | gnomAD-3.1.2 | 1.05193E-04 | None | None | None | None | N | None | 3.38115E-04 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
L/F | 2589 | Ig-15 | 57 | rs372080212 | 0.7111 | -1.617 | 1.0 | D | 0.827 | 0.599 | 0.810717827077 | gnomAD-4.0.0 | 1.92124E-05 | None | None | None | None | N | None | 3.07207E-04 | 8.3414E-05 | None | 0 | 0 | None | 0 | 0 | 8.47581E-07 | 0 | 3.20154E-05 |
L/F | 2676 | Ig-16 | 56 | rs1411544745 | 0.5793 | -1.843 | 1.0 | D | 0.807 | 0.57 | 0.418344901717 | gnomAD-2.1.1 | 7.96E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.09123E-04 | None | 0 | None | 0 | 0 | 0 |
L/F | 2676 | Ig-16 | 56 | rs1411544745 | 0.5793 | -1.843 | 1.0 | D | 0.807 | 0.57 | 0.418344901717 | 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/F | 2676 | Ig-16 | 56 | rs1411544745 | 0.5793 | -1.843 | 1.0 | D | 0.807 | 0.57 | 0.418344901717 | gnomAD-4.0.0 | 7.43507E-06 | None | None | None | None | N | None | 0 | 3.33378E-05 | None | 0 | 1.7838E-04 | None | 0 | 0 | 1.6949E-06 | 0 | 0 |
L/V | 2764 | Ig-17 | 58 | rs2091305777 | 0.3577 | None | 0.885 | D | 0.658 | 0.538 | 0.863069828929 | gnomAD-4.0.0 | 4.10441E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39576E-06 | 0 | 0 |
L/V | 2938 | Ig-19 | 57 | rs755055056 | 0.7907 | -1.156 | 0.999 | D | 0.639 | 0.738 | 0.825267418204 | gnomAD-2.1.1 | 3.54E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 3.98153E-04 | 0 | 0 |
L/V | 2938 | Ig-19 | 57 | rs755055056 | 0.7907 | -1.156 | 0.999 | D | 0.639 | 0.738 | 0.825267418204 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 1.88786E-04 | 0 | 0 | 0 | 0 |
L/V | 2938 | Ig-19 | 57 | rs755055056 | 0.7907 | -1.156 | 0.999 | D | 0.639 | 0.738 | 0.825267418204 | gnomAD-4.0.0 | 1.79312E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.1967E-04 | 0 | 0 | 0 | 0 |
L/V | 3025 | Ig-20 | 57 | rs142410663 | 0.5569 | -0.563 | 0.999 | D | 0.674 | 0.702 | None | gnomAD-2.1.1 | 7.96E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.76E-05 | 0 |
L/V | 3025 | Ig-20 | 57 | rs142410663 | 0.5569 | -0.563 | 0.999 | D | 0.674 | 0.702 | None | gnomAD-4.0.0 | 3.1812E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71298E-06 | 0 | 0 |
L/F | 3114 | Ig-21 | 57 | rs556868685 | 0.7569 | -1.436 | 0.993 | D | 0.799 | 0.417 | 0.347217280506 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | None | N | None | 6.15E-05 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
L/F | 3114 | Ig-21 | 57 | rs556868685 | 0.7569 | -1.436 | 0.993 | D | 0.799 | 0.417 | 0.347217280506 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
L/F | 3114 | Ig-21 | 57 | rs556868685 | 0.7569 | -1.436 | 0.993 | D | 0.799 | 0.417 | 0.347217280506 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
L/F | 3114 | Ig-21 | 57 | rs556868685 | 0.7569 | -1.436 | 0.993 | D | 0.799 | 0.417 | 0.347217280506 | gnomAD-4.0.0 | 3.09766E-06 | None | None | None | None | N | None | 1.33223E-05 | 1.66628E-05 | None | 0 | 0 | None | 0 | 0 | 2.54237E-06 | 0 | 0 |
M/I | 3205 | Ig-22 | 59 | None | 0.9379 | None | 0.028 | N | 0.335 | 0.175 | 0.319970858106 | gnomAD-4.0.0 | 1.59053E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85656E-06 | 0 | 0 |
M/T | 3205 | Ig-22 | 59 | rs1315204138 | 0.9945 | -0.626 | 0.912 | N | 0.694 | 0.329 | 0.513503867364 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
M/T | 3205 | Ig-22 | 59 | rs1315204138 | 0.9945 | -0.626 | 0.912 | N | 0.694 | 0.329 | 0.513503867364 | 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 |
M/T | 3205 | Ig-22 | 59 | rs1315204138 | 0.9945 | -0.626 | 0.912 | N | 0.694 | 0.329 | 0.513503867364 | gnomAD-4.0.0 | 2.02982E-06 | None | None | None | None | N | None | 1.74685E-05 | 0 | None | 0 | 0 | None | 0 | 5.16529E-04 | 0 | 0 | 0 |
L/F | 3296 | Ig-23 | 58 | rs1449589213 | 0.6808 | -1.599 | 0.993 | D | 0.761 | 0.614 | 0.87793777064 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 0 |
L/F | 3296 | Ig-23 | 58 | rs1449589213 | 0.6808 | -1.599 | 0.993 | D | 0.761 | 0.614 | 0.87793777064 | gnomAD-4.0.0 | 3.18099E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85647E-06 | 1.43275E-05 | 0 |
M/I | 3524 | Ig-25 | 60 | rs1049058784 | 0.8456 | None | None | None | None | 0.119 | 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 |
M/L | 3524 | Ig-25 | 60 | None | 0.1908 | None | None | None | None | 0.1 | None | 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 |
F/I | 3996 | Ig-28 | 59 | None | 0.4348 | None | 0.006 | N | 0.387 | 0.052 | None | gnomAD-4.0.0 | 2.0528E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69829E-06 | 0 | 0 |
F/L | 3996 | Ig-28 | 59 | rs1247960779 | 0.8088 | -0.583 | None | N | 0.279 | 0.057 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
F/L | 3996 | Ig-28 | 59 | rs1247960779 | 0.8088 | -0.583 | None | N | 0.279 | 0.057 | None | gnomAD-4.0.0 | 1.59171E-06 | None | None | None | None | N | None | 0 | 2.28655E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
F/S | 3996 | Ig-28 | 59 | rs778023038 | 0.9876 | -2.48 | 0.492 | N | 0.805 | 0.452 | 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 |
L/P | 4945 | Ig-32 | 58 | None | 0.9881 | None | 1.0 | D | 0.919 | 0.832 | 0.861823502751 | gnomAD-4.0.0 | 1.5918E-06 | None | None | None | None | N | None | 0 | 2.28728E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
L/V | 4945 | Ig-32 | 58 | None | 0.0899 | None | 0.767 | N | 0.42 | 0.387 | 0.688782367926 | 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 |
L/F | 5039 | Ig-33 | 59 | rs917573806 | 0.5288 | None | 1.0 | D | 0.821 | 0.544 | 0.710613719351 | gnomAD-4.0.0 | 1.5913E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8584E-06 | 0 | 0 |
L/P | 5132 | Ig-34 | 58 | None | 0.994 | None | 1.0 | D | 0.918 | 0.922 | 0.945249901596 | gnomAD-4.0.0 | 1.59144E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85863E-06 | 0 | 0 |
L/F | 5318 | Ig-36 | 58 | rs1312777672 | 0.5724 | -1.315 | 0.999 | D | 0.8 | 0.632 | 0.802960216855 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
L/F | 5318 | Ig-36 | 58 | rs1312777672 | 0.5724 | -1.315 | 0.999 | D | 0.8 | 0.632 | 0.802960216855 | 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 |
L/F | 5318 | Ig-36 | 58 | rs1312777672 | 0.5724 | -1.315 | 0.999 | D | 0.8 | 0.632 | 0.802960216855 | gnomAD-4.0.0 | 3.84337E-06 | None | None | None | None | N | None | 3.38192E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.3402E-05 | 0 |
L/I | 5318 | Ig-36 | 58 | rs1312777672 | 0.1997 | -0.145 | 0.992 | D | 0.677 | 0.536 | 0.77125546122 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.4433E-04 | None | 0 | None | 0 | 0 | 0 |
L/I | 5318 | Ig-36 | 58 | rs1312777672 | 0.1997 | -0.145 | 0.992 | D | 0.677 | 0.536 | 0.77125546122 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.9253E-04 | None | 0 | 0 | 0 | 0 | 0 |
L/I | 5318 | Ig-36 | 58 | rs1312777672 | 0.1997 | -0.145 | 0.992 | D | 0.677 | 0.536 | 0.77125546122 | gnomAD-4.0.0 | 6.57082E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.9253E-04 | None | 0 | 0 | 0 | 0 | 0 |
L/R | 5318 | Ig-36 | 58 | None | 0.9794 | None | 0.999 | D | 0.893 | 0.857 | 0.8876104219 | gnomAD-4.0.0 | 6.84218E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99463E-07 | 0 | 0 |
L/S | 5414 | Ig-37 | 58 | rs764508505 | 0.9806 | -3.247 | 0.997 | D | 0.893 | 0.774 | 0.910103704093 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.68312E-04 | None | 0 | None | 0 | 0 | 0 |
L/S | 5414 | Ig-37 | 58 | rs764508505 | 0.9806 | -3.247 | 0.997 | D | 0.893 | 0.774 | 0.910103704093 | gnomAD-4.0.0 | 1.36864E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.05306E-05 | None | 0 | 0 | 0 | 0 | 0 |
L/W | 5414 | Ig-37 | 58 | rs764508505 | 0.9478 | None | 1.0 | D | 0.874 | 0.793 | 0.90289129007 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
L/W | 5414 | Ig-37 | 58 | rs764508505 | 0.9478 | None | 1.0 | D | 0.874 | 0.793 | 0.90289129007 | gnomAD-4.0.0 | 1.8594E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69529E-06 | 0 | 1.60169E-05 |
L/S | 5787 | Ig-41 | 58 | rs752558864 | 0.9914 | -2.694 | 0.997 | D | 0.808 | 0.852 | 0.898220301615 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.34E-05 | 0 |
L/S | 5787 | Ig-41 | 58 | rs752558864 | 0.9914 | -2.694 | 0.997 | D | 0.808 | 0.852 | 0.898220301615 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
L/S | 5787 | Ig-41 | 58 | rs752558864 | 0.9914 | -2.694 | 0.997 | D | 0.808 | 0.852 | 0.898220301615 | gnomAD-4.0.0 | 2.41686E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.13616E-05 | 0 | 3.20256E-05 |
L/Q | 5880 | Ig-42 | 58 | rs1328429496 | 0.9761 | -1.933 | 1.0 | D | 0.902 | 0.798 | 0.875547642386 | 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 |
L/Q | 5880 | Ig-42 | 58 | rs1328429496 | 0.9761 | -1.933 | 1.0 | D | 0.902 | 0.798 | 0.875547642386 | 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 |
L/Q | 5880 | Ig-42 | 58 | rs1328429496 | 0.9761 | -1.933 | 1.0 | D | 0.902 | 0.798 | 0.875547642386 | gnomAD-4.0.0 | 6.57566E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47063E-05 | 0 | 0 |
L/R | 5880 | Ig-42 | 58 | None | 0.9817 | None | 1.0 | D | 0.888 | 0.839 | 0.875113701297 | gnomAD-4.0.0 | 6.00161E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-06 | 0 | 3.66327E-05 |
L/I | 6069 | Ig-44 | 58 | None | 0.1628 | None | 0.79 | N | 0.377 | 0.37 | 0.308904156042 | gnomAD-4.0.0 | 1.59197E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4332E-05 | 0 |
L/P | 6069 | Ig-44 | 58 | None | 0.9884 | None | 1.0 | D | 0.915 | 0.754 | 0.898168116285 | gnomAD-4.0.0 | 1.59197E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85894E-06 | 0 | 0 |
F/S | 6163 | Ig-45 | 59 | rs1458021092 | 0.8784 | None | 0.891 | D | 0.813 | 0.622 | 0.827827249136 | gnomAD-4.0.0 | 1.59137E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41663E-04 | 0 | 0 | 0 |
L/F | 6256 | Ig-46 | 58 | rs747713653 | 0.4943 | None | 1.0 | D | 0.825 | 0.586 | 0.756636443533 | 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 |
L/F | 6256 | Ig-46 | 58 | rs747713653 | 0.4943 | None | 1.0 | D | 0.825 | 0.586 | 0.756636443533 | gnomAD-4.0.0 | 1.85934E-06 | None | None | None | None | N | None | 0 | 3.33578E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60133E-05 |
L/I | 6256 | Ig-46 | 58 | rs747713653 | 0.1833 | -0.515 | 0.999 | N | 0.667 | 0.537 | 0.711290743721 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
L/I | 6256 | Ig-46 | 58 | rs747713653 | 0.1833 | -0.515 | 0.999 | N | 0.667 | 0.537 | 0.711290743721 | gnomAD-4.0.0 | 6.84281E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99552E-07 | 0 | 0 |
L/R | 6256 | Ig-46 | 58 | rs780526976 | 0.9772 | -1.943 | 1.0 | D | 0.913 | 0.826 | 0.872484263163 | gnomAD-2.1.1 | 3.58E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 3.19744E-04 | 7.85E-06 | 1.40568E-04 |
L/R | 6256 | Ig-46 | 58 | rs780526976 | 0.9772 | -1.943 | 1.0 | D | 0.913 | 0.826 | 0.872484263163 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 2.83286E-04 | 0 | 0 | 0 | 0 |
L/R | 6256 | Ig-46 | 58 | rs780526976 | 0.9772 | -1.943 | 1.0 | D | 0.913 | 0.826 | 0.872484263163 | gnomAD-4.0.0 | 4.74189E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 4.08112E-04 | 0 | 2.15446E-05 | 0 | 5.69022E-05 |
L/I | 6349 | Ig-47 | 58 | rs2079884280 | 0.2847 | None | 0.688 | D | 0.706 | 0.398 | 0.591171394266 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
L/I | 6349 | Ig-47 | 58 | rs2079884280 | 0.2847 | None | 0.688 | D | 0.706 | 0.398 | 0.591171394266 | gnomAD-4.0.0 | 6.57428E-06 | None | None | None | None | N | None | 2.41383E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
L/P | 6538 | Ig-49 | 58 | rs1376037086 | 0.9889 | None | 1.0 | D | 0.894 | 0.851 | 0.919609823937 | gnomAD-4.0.0 | 4.77943E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.55494E-05 | None | 0 | 0 | 0 | 0 | 3.02828E-05 |
L/S | 6631 | Ig-50 | 58 | None | 0.9818 | None | 1.0 | D | 0.888 | 0.806 | 0.88376241617 | gnomAD-4.0.0 | 1.36887E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79948E-06 | 0 | 0 |
I/M | 6725 | Ig-51 | 59 | rs146627500 | 0.0913 | -1.275 | 0.001 | N | 0.421 | 0.09 | None | gnomAD-2.1.1 | 3.41552E-03 | None | None | None | None | N | None | 1.2409E-04 | 7.64873E-04 | None | 1.06631E-03 | 0 | None | 2.17135E-02 | None | 4E-05 | 1.77866E-03 | 3.09772E-03 |
I/M | 6725 | Ig-51 | 59 | rs146627500 | 0.0913 | -1.275 | 0.001 | N | 0.421 | 0.09 | None | gnomAD-3.1.2 | 1.74876E-03 | None | None | None | None | N | None | 1.68911E-04 | 1.70447E-03 | 0 | 8.65052E-04 | 0 | None | 0 | 0 | 1.6473E-03 | 2.37997E-02 | 1.43267E-03 |
I/M | 6725 | Ig-51 | 59 | rs146627500 | 0.0913 | -1.275 | 0.001 | N | 0.421 | 0.09 | None | 1000 genomes | 5.99042E-03 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 2E-03 | None | None | None | 2.76E-02 | None |
I/M | 6725 | Ig-51 | 59 | rs146627500 | 0.0913 | -1.275 | 0.001 | N | 0.421 | 0.09 | None | gnomAD-4.0.0 | 2.17133E-03 | None | None | None | None | N | None | 2.40032E-04 | 9.50412E-04 | None | 8.4528E-04 | 4.45991E-05 | None | 6.24863E-05 | 4.1295E-03 | 1.08779E-03 | 2.11368E-02 | 2.64186E-03 |
I/V | 6725 | Ig-51 | 59 | rs1241938140 | 0.1387 | None | 0.002 | N | 0.38 | 0.152 | 0.165133752707 | 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 |
I/V | 6725 | Ig-51 | 59 | rs1241938140 | 0.1387 | None | 0.002 | N | 0.38 | 0.152 | 0.165133752707 | gnomAD-4.0.0 | 6.57367E-06 | None | None | None | None | N | None | 2.41289E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
I/T | 6818 | Ig-52 | 58 | rs1371747838 | 0.8922 | -2.526 | 0.998 | N | 0.767 | 0.763 | 0.826127071158 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
I/T | 6818 | Ig-52 | 58 | rs1371747838 | 0.8922 | -2.526 | 0.998 | N | 0.767 | 0.763 | 0.826127071158 | gnomAD-4.0.0 | 1.36887E-06 | None | None | None | None | N | None | 2.99079E-05 | 2.23874E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
I/V | 6818 | Ig-52 | 58 | rs2079253032 | 0.1037 | None | 0.003 | N | 0.227 | 0.167 | 0.619456947012 | gnomAD-4.0.0 | 7.96229E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.38727E-04 | None | 0 | 0 | 0 | 0 | 0 |
L/I | 6912 | Ig-53 | 59 | rs879042542 | 0.2314 | -0.505 | 0.994 | D | 0.614 | 0.508 | None | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
L/I | 6912 | Ig-53 | 59 | rs879042542 | 0.2314 | -0.505 | 0.994 | D | 0.614 | 0.508 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
L/P | 6912 | Ig-53 | 59 | rs780735199 | 0.9973 | -1.539 | 0.998 | D | 0.888 | 0.865 | 0.832001373036 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
L/P | 6912 | Ig-53 | 59 | rs780735199 | 0.9973 | -1.539 | 0.998 | D | 0.888 | 0.865 | 0.832001373036 | 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 |
L/P | 6912 | Ig-53 | 59 | rs780735199 | 0.9973 | -1.539 | 0.998 | D | 0.888 | 0.865 | 0.832001373036 | gnomAD-4.0.0 | 2.56391E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.56966E-05 | 0 | 0 | 0 | 2.84706E-05 |
L/F | 7005 | Ig-54 | 58 | None | 0.4327 | None | 0.982 | N | 0.691 | 0.533 | 0.605722390383 | gnomAD-4.0.0 | 1.59181E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77362E-05 | None | 0 | 0 | 0 | 0 | 0 |
L/S | 7101 | Ig-55 | 58 | None | 0.9805 | None | 1.0 | D | 0.873 | 0.772 | 0.898077514524 | gnomAD-4.0.0 | 1.59191E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85969E-06 | 0 | 0 |
L/P | 7194 | Ig-56 | 58 | None | 0.9956 | None | 0.991 | D | 0.922 | 0.807 | 0.914077616967 | gnomAD-4.0.0 | 1.59231E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4339E-05 | 0 |
L/V | 7287 | Ig-57 | 58 | rs754054875 | 0.3353 | -1.544 | 0.998 | D | 0.701 | 0.592 | 0.737275244558 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
L/V | 7287 | Ig-57 | 58 | rs754054875 | 0.3353 | -1.544 | 0.998 | D | 0.701 | 0.592 | 0.737275244558 | 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 |
L/V | 7287 | Ig-57 | 58 | rs754054875 | 0.3353 | -1.544 | 0.998 | D | 0.701 | 0.592 | 0.737275244558 | gnomAD-4.0.0 | 3.09914E-06 | None | None | None | None | N | None | 6.67824E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
L/F | 7380 | Ig-58 | 58 | rs1322468244 | 0.5157 | None | 1.0 | D | 0.713 | 0.564 | 0.780422376419 | gnomAD-4.0.0 | 2.73776E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59859E-06 | 0 | 0 |
L/I | 7380 | Ig-58 | 58 | rs1322468244 | 0.1518 | 0.069 | 0.979 | N | 0.635 | 0.446 | 0.706338937978 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
L/R | 7380 | Ig-58 | 58 | rs1273455014 | 0.9716 | None | 1.0 | D | 0.87 | 0.859 | 0.821671387332 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
L/R | 7380 | Ig-58 | 58 | rs1273455014 | 0.9716 | None | 1.0 | D | 0.87 | 0.859 | 0.821671387332 | gnomAD-4.0.0 | 6.5722E-06 | None | None | None | None | N | None | 2.41185E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
L/F | 7476 | Ig-59 | 58 | rs1196470508 | 0.514 | -1.581 | 1.0 | D | 0.821 | 0.65 | 0.770564647879 | gnomAD-2.1.1 | 7.18E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
L/F | 7476 | Ig-59 | 58 | rs1196470508 | 0.514 | -1.581 | 1.0 | D | 0.821 | 0.65 | 0.770564647879 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
L/F | 7476 | Ig-59 | 58 | rs1196470508 | 0.514 | -1.581 | 1.0 | D | 0.821 | 0.65 | 0.770564647879 | gnomAD-4.0.0 | 7.6915E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.43671E-05 | 0 | 0 |
L/S | 7476 | Ig-59 | 58 | rs1330405287 | 0.9902 | None | 1.0 | D | 0.878 | 0.872 | 0.917983046632 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
L/S | 7476 | Ig-59 | 58 | rs1330405287 | 0.9902 | None | 1.0 | D | 0.878 | 0.872 | 0.917983046632 | gnomAD-4.0.0 | 2.03002E-06 | None | None | None | None | N | None | 0 | 6.16295E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 4.69704E-05 | 0 |
L/S | 7572 | Ig-60 | 58 | rs759949024 | 0.9978 | -3.078 | 1.0 | D | 0.885 | 0.696 | 0.888493578324 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
L/S | 7572 | Ig-60 | 58 | rs759949024 | 0.9978 | -3.078 | 1.0 | D | 0.885 | 0.696 | 0.888493578324 | gnomAD-4.0.0 | 6.84338E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99637E-07 | 0 | 0 |
L/V | 7572 | Ig-60 | 58 | None | 0.4009 | None | 0.994 | D | 0.746 | 0.553 | 0.632447501408 | gnomAD-4.0.0 | 6.84317E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99607E-07 | 0 | 0 |
L/F | 7666 | Ig-61 | 59 | None | 0.6107 | None | 1.0 | D | 0.803 | 0.523 | 0.758381520966 | gnomAD-4.0.0 | 1.36886E-06 | None | None | None | None | N | None | 5.97943E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
L/V | 7666 | Ig-61 | 59 | rs2078276460 | 0.3215 | None | 0.989 | D | 0.65 | 0.515 | 0.721660892059 | gnomAD-4.0.0 | 6.84431E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51991E-05 | None | 0 | 0 | 0 | 0 | 0 |
L/I | 7759 | Ig-62 | 58 | None | 0.1139 | None | 0.885 | N | 0.607 | 0.443 | 0.601121310199 | gnomAD-4.0.0 | 2.05283E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79909E-06 | 1.1595E-05 | 0 |
L/F | 7853 | Ig-63 | 59 | rs776061262 | 0.5562 | -1.688 | 0.988 | D | 0.806 | 0.609 | 0.685073295601 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.89E-06 | 0 |
L/F | 7853 | Ig-63 | 59 | rs776061262 | 0.5562 | -1.688 | 0.988 | D | 0.806 | 0.609 | 0.685073295601 | gnomAD-4.0.0 | 3.18285E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43287E-05 | 3.02462E-05 |
L/S | 8042 | Ig-65 | 58 | rs774349184 | 0.925 | -3.319 | 0.925 | D | 0.835 | 0.653 | 0.886485767826 | 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 |
L/S | 8042 | Ig-65 | 58 | rs774349184 | 0.925 | -3.319 | 0.925 | D | 0.835 | 0.653 | 0.886485767826 | gnomAD-4.0.0 | 1.59125E-06 | None | None | None | None | N | None | 0 | 2.28645E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
L/M | 8135 | Ig-66 | 58 | rs762631646 | 0.2206 | -0.821 | 0.825 | D | 0.589 | 0.405 | 0.557792573389 | 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 |
L/M | 8135 | Ig-66 | 58 | rs762631646 | 0.2206 | -0.821 | 0.825 | D | 0.589 | 0.405 | 0.557792573389 | gnomAD-4.0.0 | 1.59128E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 0 |
L/R | 8135 | Ig-66 | 58 | rs2077892519 | 0.9742 | None | 0.994 | D | 0.901 | 0.849 | 0.895273315748 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
L/R | 8135 | Ig-66 | 58 | rs2077892519 | 0.9742 | None | 0.994 | D | 0.901 | 0.849 | 0.895273315748 | gnomAD-4.0.0 | 5.12441E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.35992E-05 | 0 |
L/F | 8417 | Ig-69 | 58 | rs774234445 | 0.6722 | -1.504 | 0.999 | D | 0.79 | 0.535 | 0.714281344481 | 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 |
L/F | 8417 | Ig-69 | 58 | rs774234445 | 0.6722 | -1.504 | 0.999 | D | 0.79 | 0.535 | 0.714281344481 | gnomAD-4.0.0 | 4.7774E-06 | None | None | None | None | N | None | 0 | 2.28802E-05 | None | 0 | 0 | None | 0 | 0 | 2.85989E-06 | 0 | 3.027E-05 |
L/P | 8513 | Ig-70 | 58 | None | 0.9987 | None | 1.0 | D | 0.909 | 0.862 | 0.922627982565 | gnomAD-4.0.0 | 1.59169E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85917E-06 | 0 | 0 |
L/P | 8607 | Ig-71 | 59 | rs780404365 | 0.9912 | -1.635 | 1.0 | D | 0.924 | 0.841 | 0.895674922005 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
L/R | 8607 | Ig-71 | 59 | None | 0.9656 | None | 0.999 | D | 0.918 | 0.831 | 0.876399648183 | gnomAD-4.0.0 | 1.59155E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85901E-06 | 0 | 0 |
I/N | 8700 | Ig-72 | 58 | rs1404662292 | 0.9333 | -3.013 | 1.0 | N | 0.88 | 0.545 | 0.809427183511 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
I/N | 8700 | Ig-72 | 58 | rs1404662292 | 0.9333 | -3.013 | 1.0 | N | 0.88 | 0.545 | 0.809427183511 | gnomAD-4.0.0 | 1.59141E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02389E-05 |
I/V | 8700 | Ig-72 | 58 | None | 0.0962 | None | 0.163 | N | 0.363 | 0.103 | 0.335910606209 | gnomAD-4.0.0 | 1.36847E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79905E-06 | 0 | 0 |
L/I | 8794 | Ig-73 | 59 | None | 0.163 | 0.057 | 0.165 | D | 0.633 | 0.258 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
L/I | 8794 | Ig-73 | 59 | None | 0.163 | 0.057 | 0.165 | D | 0.633 | 0.258 | 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 |
L/I | 8794 | Ig-73 | 59 | None | 0.163 | 0.057 | 0.165 | D | 0.633 | 0.258 | None | gnomAD-4.0.0 | 3.09861E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23819E-06 | 0 | 0 |
L/V | 8794 | Ig-73 | 59 | rs372229450 | 0.1712 | -0.582 | 0.005 | D | 0.439 | 0.289 | 0.555987101472 | gnomAD-2.1.1 | 2.5E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.58607E-04 | None | 0 | None | 0 | 0 | 0 |
L/V | 8794 | Ig-73 | 59 | rs372229450 | 0.1712 | -0.582 | 0.005 | D | 0.439 | 0.289 | 0.555987101472 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 5.78258E-04 | None | 0 | 0 | 0 | 0 | 0 |
L/V | 8794 | Ig-73 | 59 | rs372229450 | 0.1712 | -0.582 | 0.005 | D | 0.439 | 0.289 | 0.555987101472 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
L/V | 8794 | Ig-73 | 59 | rs372229450 | 0.1712 | -0.582 | 0.005 | D | 0.439 | 0.289 | 0.555987101472 | gnomAD-4.0.0 | 1.79706E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.23969E-04 | None | 0 | 0 | 8.47643E-07 | 0 | 0 |
L/F | 8983 | Ig-75 | 58 | rs878969676 | 0.4301 | -1.569 | 0.99 | D | 0.598 | 0.58 | 0.510466299808 | 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 |
L/F | 8983 | Ig-75 | 58 | rs878969676 | 0.4301 | -1.569 | 0.99 | D | 0.598 | 0.58 | 0.510466299808 | gnomAD-4.0.0 | 6.84241E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99491E-06 | 0 | 0 |
L/V | 8983 | Ig-75 | 58 | rs2154296469 | 0.2897 | None | 0.822 | D | 0.685 | 0.414 | 0.416075642716 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.9253E-04 | None | 0 | 0 | 0 | 0 | 0 |
L/V | 8983 | Ig-75 | 58 | rs2154296469 | 0.2897 | None | 0.822 | D | 0.685 | 0.414 | 0.416075642716 | gnomAD-4.0.0 | 6.56711E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.92976E-04 | None | 0 | 0 | 0 | 0 | 0 |
L/V | 9076 | Ig-76 | 58 | None | 0.3389 | None | 0.981 | D | 0.685 | 0.566 | 0.632033471028 | gnomAD-4.0.0 | 1.36846E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79896E-06 | 0 | 0 |
L/M | 9169 | Ig-77 | 58 | None | 0.2206 | None | 1.0 | D | 0.809 | 0.622 | 0.822590732275 | 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 |
L/P | 9169 | Ig-77 | 58 | rs769078430 | 0.9987 | -1.835 | 1.0 | D | 0.901 | 0.854 | 0.92016668155 | 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 |
L/P | 9169 | Ig-77 | 58 | rs769078430 | 0.9987 | -1.835 | 1.0 | D | 0.901 | 0.854 | 0.92016668155 | gnomAD-4.0.0 | 3.18227E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71595E-06 | 0 | 0 |
L/V | 9262 | Ig-78 | 58 | rs897313799 | 0.2311 | None | 0.999 | D | 0.655 | 0.596 | 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 |
L/V | 9262 | Ig-78 | 58 | rs897313799 | 0.2311 | None | 0.999 | D | 0.655 | 0.596 | None | gnomAD-4.0.0 | 6.57125E-06 | None | None | None | None | N | None | 2.41255E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
L/F | 9358 | Ig-79 | 58 | rs1266271972 | 0.5515 | -1.461 | 1.0 | None | 0.822 | 0.624 | 0.750213111841 | 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 |
L/F | 9358 | Ig-79 | 58 | rs1266271972 | 0.5515 | -1.461 | 1.0 | None | 0.822 | 0.624 | 0.750213111841 | gnomAD-4.0.0 | 1.59111E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77239E-05 | None | 0 | 0 | 0 | 0 | 0 |
L/P | 9551 | Ig-81 | 59 | None | 0.9977 | None | 1.0 | None | 0.91 | 0.859 | 0.908716035956 | 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 |
L/M | 9647 | Ig-82 | 58 | None | 0.2145 | -0.916 | 1.0 | None | 0.78 | 0.569 | 0.709279802104 | 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 |
L/M | 9647 | Ig-82 | 58 | None | 0.2145 | -0.916 | 1.0 | None | 0.78 | 0.569 | 0.709279802104 | gnomAD-4.0.0 | 1.59119E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85788E-06 | 0 | 0 |
L/W | 10045 | Ig-85 | 57 | rs776484795 | 0.9487 | -1.715 | 1.0 | None | 0.843 | 0.765 | 0.878366613624 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
L/W | 10045 | Ig-85 | 57 | rs776484795 | 0.9487 | -1.715 | 1.0 | None | 0.843 | 0.765 | 0.878366613624 | gnomAD-4.0.0 | 3.04479E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.61477E-06 | 0 | 0 |
M/I | 10134 | Ig-86 | 57 | None | 0.9824 | None | 0.309 | None | 0.523 | 0.263 | 0.363158594168 | gnomAD-4.0.0 | 3.18188E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86648E-05 | 0 |
M/T | 10134 | Ig-86 | 57 | rs755668668 | 0.9986 | -0.242 | 0.684 | None | 0.743 | 0.418 | 0.54665026281 | 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 |
L/V | 13837 | Ig-88 | 58 | None | 0.3499 | None | 0.022 | N | 0.284 | 0.115 | 0.276482976112 | gnomAD-4.0.0 | 6.84402E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65695E-05 |
L/F | 14021 | Ig-90 | 57 | None | 0.9718 | None | 0.999 | D | 0.811 | 0.544 | 0.620476206791 | gnomAD-4.0.0 | 6.8478E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16347E-05 | 0 |
M/I | 14464 | Ig-95 | 57 | rs370601384 | 0.3116 | 1.039 | 0.002 | N | 0.441 | 0.32 | 0.529161192476 | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | N | None | 6.46E-05 | 1.44919E-04 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
M/I | 14464 | Ig-95 | 57 | rs370601384 | 0.3116 | 1.039 | 0.002 | N | 0.441 | 0.32 | 0.529161192476 | gnomAD-3.1.2 | 7.23E-05 | None | None | None | None | N | None | 4.82E-05 | 3.93649E-04 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
M/I | 14464 | Ig-95 | 57 | rs370601384 | 0.3116 | 1.039 | 0.002 | N | 0.441 | 0.32 | 0.529161192476 | gnomAD-4.0.0 | 2.47932E-05 | None | None | None | None | N | None | 2.67023E-05 | 1.83468E-04 | None | 0 | 0 | None | 0 | 0 | 2.03462E-05 | 0 | 4.80507E-05 |
I/V | 14553 | Ig-96 | 57 | None | 0.1348 | None | 0.022 | N | 0.216 | 0.297 | 0.533662478252 | gnomAD-4.0.0 | 6.86982E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.17467E-05 | 0 |
L/F | 14731 | Ig-98 | 57 | rs771361227 | 0.7995 | -1.643 | 0.999 | D | 0.82 | 0.593 | 0.785219713586 | gnomAD-2.1.1 | 1.13242E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.30356E-04 | None | 0 | 0 | 0 |
L/F | 14731 | Ig-98 | 57 | rs771361227 | 0.7995 | -1.643 | 0.999 | D | 0.82 | 0.593 | 0.785219713586 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 1.45228E-03 | 0 |
L/F | 14731 | Ig-98 | 57 | rs771361227 | 0.7995 | -1.643 | 0.999 | D | 0.82 | 0.593 | 0.785219713586 | gnomAD-4.0.0 | 6.45231E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48031E-07 | 1.09363E-03 | 6.4119E-05 |
L/F | 14909 | Ig-100 | 57 | None | 0.7011 | None | 1.0 | D | 0.817 | 0.608 | 0.55810899713 | gnomAD-4.0.0 | 1.5934E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4332E-05 | 0 |
L/F | 15264 | Ig-104 | 57 | None | 0.7204 | None | 1.0 | D | 0.813 | 0.72 | 0.752632724806 | gnomAD-4.0.0 | 4.79222E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29921E-06 | 0 | 0 |
L/P | 15264 | Ig-104 | 57 | None | 0.9989 | None | 1.0 | D | 0.915 | 0.865 | 0.911412973807 | gnomAD-4.0.0 | 1.59332E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43328E-05 | 0 |
L/V | 15264 | Ig-104 | 57 | None | 0.4587 | None | 0.999 | D | 0.623 | 0.662 | 0.726062263 | gnomAD-4.0.0 | 6.84603E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15969E-05 | 0 |
L/F | 15447 | Ig-106 | 57 | None | 0.9035 | None | 1.0 | D | 0.81 | 0.724 | 0.909987953017 | gnomAD-4.0.0 | 1.59565E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43666E-05 | 0 |
L/Q | 15536 | Ig-107 | 57 | rs775884428 | 0.9919 | -2.643 | 1.0 | D | 0.912 | 0.896 | 0.892716174367 | gnomAD-2.1.1 | 2.42E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.96181E-04 | None | 0 | 0 | 0 |
L/Q | 15536 | Ig-107 | 57 | rs775884428 | 0.9919 | -2.643 | 1.0 | D | 0.912 | 0.896 | 0.892716174367 | gnomAD-4.0.0 | 8.9016E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.39221E-04 | 1.65837E-05 |
F/L | 15622 | Ig-108 | 55 | rs758851565 | 0.8367 | -0.227 | 0.91 | N | 0.695 | 0.254 | 0.296329037015 | 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 |
F/L | 15622 | Ig-108 | 55 | rs758851565 | 0.8367 | -0.227 | 0.91 | N | 0.695 | 0.254 | 0.296329037015 | gnomAD-4.0.0 | 1.59483E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78489E-05 | None | 0 | 0 | 0 | 0 | 0 |
V/M | 16316 | Ig-110 | 55 | None | 0.342 | None | 0.998 | N | 0.694 | 0.175 | 0.454987352986 | 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 |
L/P | 17012 | Ig-111 | 58 | None | 0.9949 | None | 1.0 | D | 0.905 | 0.883 | 0.911962184262 | 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 |
L/V | 17729 | Ig-113 | 53 | rs767559716 | 0.2298 | -1.485 | 0.198 | N | 0.387 | 0.381 | 0.510872562601 | 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 |
L/V | 17729 | Ig-113 | 53 | rs767559716 | 0.2298 | -1.485 | 0.198 | N | 0.387 | 0.381 | 0.510872562601 | gnomAD-4.0.0 | 6.84397E-07 | None | None | None | None | N | None | 0 | 2.23664E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
L/F | 18030 | Ig-114 | 63 | None | 0.3155 | None | 0.864 | N | 0.593 | 0.504 | 0.532744658726 | gnomAD-4.0.0 | 1.3692E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79975E-06 | 0 | 0 |
L/S | 18749 | Ig-116 | 62 | rs2052744702 | 0.9931 | None | 0.997 | D | 0.895 | 0.85 | 0.902597205664 | 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/L | 19148 | Ig-117 | 54 | None | 0.0965 | None | 0.001 | N | 0.224 | 0.102 | 0.154104182512 | gnomAD-4.0.0 | 2.05325E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69892E-06 | 0 | 0 |
M/T | 19148 | Ig-117 | 54 | rs751101760 | 0.9076 | None | 0.6 | N | 0.595 | 0.302 | 0.60311569301 | 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 |
M/V | 19148 | Ig-117 | 54 | rs188185141 | 0.1093 | -0.463 | 0.065 | N | 0.425 | 0.144 | None | gnomAD-2.1.1 | 4.97484E-04 | None | None | None | None | N | None | 8.27E-05 | 5.67E-05 | None | 0 | 4.13522E-04 | None | 0 | None | 4.79655E-04 | 8.86094E-04 | 2.81294E-04 |
M/V | 19148 | Ig-117 | 54 | rs188185141 | 0.1093 | -0.463 | 0.065 | N | 0.425 | 0.144 | None | gnomAD-3.1.2 | 3.94612E-04 | None | None | None | None | N | None | 1.20697E-04 | 6.55E-05 | 0 | 0 | 5.83658E-04 | None | 1.88288E-04 | 0 | 7.0609E-04 | 0 | 4.78011E-04 |
M/V | 19148 | Ig-117 | 54 | rs188185141 | 0.1093 | -0.463 | 0.065 | N | 0.425 | 0.144 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 1E-03 | None | None | None | 0 | None |
M/V | 19148 | Ig-117 | 54 | rs188185141 | 0.1093 | -0.463 | 0.065 | N | 0.425 | 0.144 | None | gnomAD-4.0.0 | 6.66352E-04 | None | None | None | None | N | None | 1.60009E-04 | 5.003E-05 | None | 0 | 2.46118E-04 | None | 4.37418E-04 | 0 | 8.47798E-04 | 0 | 3.36226E-04 |
L/S | 19444 | Ig-118 | 54 | rs1239800877 | 0.9721 | None | 1.0 | D | 0.893 | 0.711 | 0.742624401447 | 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 |
L/S | 19444 | Ig-118 | 54 | rs1239800877 | 0.9721 | None | 1.0 | D | 0.893 | 0.711 | 0.742624401447 | gnomAD-4.0.0 | 6.57618E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47085E-05 | 0 | 0 |
L/H | 20136 | Ig-120 | 57 | rs1060500492 | 0.9858 | -3.055 | 1.0 | D | 0.888 | 0.772 | 0.920432766518 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
L/H | 20136 | Ig-120 | 57 | rs1060500492 | 0.9858 | -3.055 | 1.0 | D | 0.888 | 0.772 | 0.920432766518 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
L/H | 20136 | Ig-120 | 57 | rs1060500492 | 0.9858 | -3.055 | 1.0 | D | 0.888 | 0.772 | 0.920432766518 | gnomAD-4.0.0 | 8.97353E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.67633E-05 | 0 | 0 |
F/C | 20829 | Ig-122 | 61 | rs878916429 | 0.8326 | -1.003 | 0.999 | N | 0.854 | 0.419 | 0.344945010812 | 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 |
F/C | 20829 | Ig-122 | 61 | rs878916429 | 0.8326 | -1.003 | 0.999 | N | 0.854 | 0.419 | 0.344945010812 | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
F/C | 20829 | Ig-122 | 61 | rs878916429 | 0.8326 | -1.003 | 0.999 | N | 0.854 | 0.419 | 0.344945010812 | gnomAD-4.0.0 | 1.48758E-05 | None | None | None | None | N | None | 5.34088E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69546E-05 | 0 | 0 |
F/L | 20829 | Ig-122 | 61 | None | 0.8511 | None | 0.76 | N | 0.679 | 0.202 | 0.137902524267 | 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 |
L/V | 21524 | Ig-124 | 56 | rs1378663120 | 0.3216 | -0.952 | 0.898 | N | 0.705 | 0.501 | 0.732481921647 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11421E-04 | None | 0 | None | 0 | 0 | 0 |
L/V | 21524 | Ig-124 | 56 | rs1378663120 | 0.3216 | -0.952 | 0.898 | N | 0.705 | 0.501 | 0.732481921647 | gnomAD-4.0.0 | 3.18443E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.54785E-05 | None | 0 | 0 | 0 | 0 | 0 |
L/S | 21921 | Ig-125 | 56 | None | 0.9752 | None | 0.997 | D | 0.845 | 0.855 | 0.85411213676 | 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 |
L/V | 22319 | Ig-126 | 55 | None | 0.2452 | None | 0.999 | N | 0.655 | 0.592 | 0.657603740773 | gnomAD-4.0.0 | 1.59248E-06 | None | None | None | None | N | None | 0 | 2.28718E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
L/F | 22608 | Ig-127 | 49 | rs749645303 | 0.4639 | -1.491 | 1.0 | N | 0.797 | 0.602 | 0.82342218508 | gnomAD-4.0.0 | 1.59189E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02554E-05 |
L/V | 23005 | Ig-128 | 56 | rs1196794512 | 0.1696 | -1.078 | 0.09 | D | 0.711 | 0.325 | 0.52170519339 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
L/V | 23005 | Ig-128 | 56 | rs1196794512 | 0.1696 | -1.078 | 0.09 | D | 0.711 | 0.325 | 0.52170519339 | gnomAD-4.0.0 | 1.5921E-06 | None | None | None | None | N | None | 5.66187E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
L/S | 23691 | Ig-130 | 55 | rs1358981791 | 0.9951 | None | 1.0 | D | 0.87 | 0.874 | 0.864153557662 | 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 |
L/S | 23691 | Ig-130 | 55 | rs1358981791 | 0.9951 | None | 1.0 | D | 0.87 | 0.874 | 0.864153557662 | gnomAD-4.0.0 | 3.71911E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08644E-06 | 0 | 0 |
L/P | 24087 | Ig-131 | 59 | rs1371976311 | 0.9938 | -1.715 | 0.997 | D | 0.888 | 0.861 | 0.90969009521 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.12082E-04 | None | 0 | None | 0 | 0 | 0 |
L/P | 24087 | Ig-131 | 59 | rs1371976311 | 0.9938 | -1.715 | 0.997 | D | 0.888 | 0.861 | 0.90969009521 | gnomAD-4.0.0 | 2.74285E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.59071E-05 | None | 0 | 0 | 0 | 0 | 1.66085E-05 |
L/V | 24087 | Ig-131 | 59 | None | 0.1229 | None | 0.17 | N | 0.407 | 0.427 | 0.503124787307 | gnomAD-4.0.0 | 1.59748E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87318E-06 | 0 | 0 |
L/P | 24484 | Ig-132 | 54 | None | 0.9983 | None | 0.998 | D | 0.891 | 0.83 | 0.831601111556 | gnomAD-4.0.0 | 1.59241E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86049E-06 | 0 | 0 |
L/P | 25566 | Ig-135 | 53 | rs1323717498 | 0.9985 | -1.447 | 1.0 | D | 0.847 | 0.873 | 0.90521616659 | 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 |
L/P | 25566 | Ig-135 | 53 | rs1323717498 | 0.9985 | -1.447 | 1.0 | D | 0.847 | 0.873 | 0.90521616659 | gnomAD-4.0.0 | 1.36888E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52512E-05 | None | 0 | 0 | 8.99661E-07 | 0 | 0 |
L/V | 25566 | Ig-135 | 53 | rs1332447067 | 0.2116 | -1.081 | 0.999 | D | 0.665 | 0.72 | 0.735321164879 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.98E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
L/V | 25566 | Ig-135 | 53 | rs1332447067 | 0.2116 | -1.081 | 0.999 | D | 0.665 | 0.72 | 0.735321164879 | gnomAD-4.0.0 | 1.36889E-06 | None | None | None | None | N | None | 0 | 0 | None | 7.6599E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
L/F | 25855 | Ig-136 | 58 | rs1409816119 | 0.3696 | -1.727 | 1.0 | N | 0.815 | 0.646 | 0.674917227544 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
L/F | 25855 | Ig-136 | 58 | rs1409816119 | 0.3696 | -1.727 | 1.0 | N | 0.815 | 0.646 | 0.674917227544 | gnomAD-4.0.0 | 1.59192E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.0259E-05 |
L/I | 26648 | Ig-138 | 55 | None | 0.1664 | None | 0.884 | D | 0.445 | 0.421 | 0.586357277508 | gnomAD-4.0.0 | 1.5915E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85878E-06 | 0 | 0 |
L/Q | 26648 | Ig-138 | 55 | rs1302262085 | 0.9863 | -2.206 | 1.0 | D | 0.863 | 0.82 | 0.837580165448 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
L/Q | 26648 | Ig-138 | 55 | rs1302262085 | 0.9863 | -2.206 | 1.0 | D | 0.863 | 0.82 | 0.837580165448 | gnomAD-4.0.0 | 6.84251E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99526E-07 | 0 | 0 |
L/R | 26648 | Ig-138 | 55 | None | 0.9869 | None | 1.0 | D | 0.86 | 0.825 | 0.808672001573 | gnomAD-4.0.0 | 1.3685E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79905E-06 | 0 | 0 |
L/F | 28415 | Ig-143 | 58 | None | 0.452 | None | 0.978 | N | 0.785 | 0.501 | 0.675152924593 | 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 |
L/V | 28810 | Ig-144 | 56 | None | 0.1406 | None | 0.248 | N | 0.39 | 0.333 | 0.56731557318 | gnomAD-4.0.0 | 2.06226E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70698E-06 | 0 | 0 |
I/V | 29102 | Ig-145 | 58 | rs1396193875 | 0.0838 | -1.469 | 0.011 | N | 0.226 | 0.063 | 0.215869574891 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
I/V | 29102 | Ig-145 | 58 | rs1396193875 | 0.0838 | -1.469 | 0.011 | N | 0.226 | 0.063 | 0.215869574891 | gnomAD-4.0.0 | 1.591E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85776E-06 | 0 | 0 |
I/T | 29498 | Ig-146 | 55 | rs762766139 | 0.9156 | -3.044 | 0.062 | N | 0.741 | 0.319 | 0.431490205687 | 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 |
I/T | 29498 | Ig-146 | 55 | rs762766139 | 0.9156 | -3.044 | 0.062 | N | 0.741 | 0.319 | 0.431490205687 | gnomAD-4.0.0 | 2.73696E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52525E-05 | None | 0 | 0 | 2.69835E-06 | 0 | 0 |
I/V | 29498 | Ig-146 | 55 | rs1559235133 | 0.0809 | None | None | N | 0.236 | 0.065 | 0.185906805712 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.61E-05 | None | 0 | None | 0 | 0 | 0 |
I/V | 29498 | Ig-146 | 55 | rs1559235133 | 0.0809 | None | None | N | 0.236 | 0.065 | 0.185906805712 | gnomAD-4.0.0 | 3.18286E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78009E-05 | None | 0 | 0 | 0 | 1.43283E-05 | 0 |
L/F | 29897 | Ig-147 | 56 | rs180798672 | 0.506 | -1.546 | 0.997 | N | 0.812 | 0.65 | None | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 1.15882E-04 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
L/F | 29897 | Ig-147 | 56 | rs180798672 | 0.506 | -1.546 | 0.997 | N | 0.812 | 0.65 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
L/F | 29897 | Ig-147 | 56 | rs180798672 | 0.506 | -1.546 | 0.997 | N | 0.812 | 0.65 | 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 |
L/F | 29897 | Ig-147 | 56 | rs180798672 | 0.506 | -1.546 | 0.997 | N | 0.812 | 0.65 | None | gnomAD-4.0.0 | 1.11535E-05 | None | None | None | None | N | None | 0 | 6.66422E-05 | None | 0 | 0 | None | 0 | 0 | 1.18662E-05 | 0 | 0 |
L/F | 30189 | Ig-148 | 58 | None | 0.2314 | None | 0.003 | N | 0.393 | 0.313 | 0.463157528383 | gnomAD-4.0.0 | 6.88953E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.02485E-07 | 0 | 0 |
L/P | 30981 | Ig-150 | 55 | None | 0.999 | None | 1.0 | D | 0.847 | 0.86 | 0.912582988975 | gnomAD-4.0.0 | 7.52609E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.89403E-06 | 0 | 0 |
L/Q | 31273 | Ig-151 | 56 | None | 0.9709 | None | 1.0 | D | 0.854 | 0.695 | 0.86173524933 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
L/V | 31273 | Ig-151 | 56 | rs1697833909 | 0.1817 | None | 0.999 | N | 0.651 | 0.466 | 0.586144602217 | gnomAD-4.0.0 | 3.18224E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.54847E-05 | None | 0 | 0 | 0 | 0 | 0 |
A/V | 31673 | Ig-152 | 53 | rs200920551 | 0.1917 | None | 0.996 | N | 0.68 | 0.422 | 0.336892272479 | gnomAD-4.0.0 | 4.77373E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71661E-06 | 0 | 3.02425E-05 |
L/Q | 32070 | Ig-153 | 54 | rs748827491 | 0.9889 | -2.419 | 1.0 | D | 0.897 | 0.794 | 0.895610212195 | 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 |
L/Q | 32070 | Ig-153 | 54 | rs748827491 | 0.9889 | -2.419 | 1.0 | D | 0.897 | 0.794 | 0.895610212195 | gnomAD-4.0.0 | 1.36847E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79904E-06 | 0 | 0 |
L/R | 32070 | Ig-153 | 54 | None | 0.9923 | None | 1.0 | D | 0.895 | 0.815 | 0.891007205168 | gnomAD-4.0.0 | 6.84236E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99522E-07 | 0 | 0 |
L/V | 32070 | Ig-153 | 54 | None | 0.3011 | None | 0.999 | N | 0.672 | 0.53 | 0.711190949314 | gnomAD-4.0.0 | 7.95715E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.38635E-04 | None | 0 | 0 | 0 | 0 | 0 |
L/F | 32760 | Ig-155 | 53 | rs1060500523 | 0.6928 | -1.744 | 1.0 | N | 0.797 | 0.511 | 0.758559352513 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.1489E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
L/F | 32760 | Ig-155 | 53 | rs1060500523 | 0.6928 | -1.744 | 1.0 | N | 0.797 | 0.511 | 0.758559352513 | 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 |
L/F | 32760 | Ig-155 | 53 | rs1060500523 | 0.6928 | -1.744 | 1.0 | N | 0.797 | 0.511 | 0.758559352513 | gnomAD-4.0.0 | 3.84332E-06 | None | None | None | None | N | None | 5.07528E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
L/F | 33653 | Ig-159 | 58 | rs1178063403 | 0.9168 | -1.38 | 1.0 | N | 0.814 | 0.676 | 0.783665132679 | 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 |
L/F | 33653 | Ig-159 | 58 | rs1178063403 | 0.9168 | -1.38 | 1.0 | N | 0.814 | 0.676 | 0.783665132679 | gnomAD-4.0.0 | 1.59127E-06 | None | None | None | None | N | None | 0 | 2.28634E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
L/I | 34194 | Ig-160 | 58 | rs745744350 | 0.2373 | -0.594 | None | N | 0.296 | 0.179 | 0.549121438896 | 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 |
L/I | 34194 | Ig-160 | 58 | rs745744350 | 0.2373 | -0.594 | None | N | 0.296 | 0.179 | 0.549121438896 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
L/I | 34194 | Ig-160 | 58 | rs745744350 | 0.2373 | -0.594 | None | N | 0.296 | 0.179 | 0.549121438896 | gnomAD-4.0.0 | 6.08965E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.02465E-06 | 0 | 3.40275E-05 |
L/V | 34999 | Ig-163 | 58 | rs727503532 | 0.4371 | -1.11 | 0.981 | D | 0.731 | 0.48 | 0.68047775509 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14863E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
L/V | 34999 | Ig-163 | 58 | rs727503532 | 0.4371 | -1.11 | 0.981 | D | 0.731 | 0.48 | 0.68047775509 | 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 |
L/V | 34999 | Ig-163 | 58 | rs727503532 | 0.4371 | -1.11 | 0.981 | D | 0.731 | 0.48 | 0.68047775509 | gnomAD-4.0.0 | 3.09815E-06 | None | None | None | None | N | None | 6.67379E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
F/S | 35186 | Ig-164 | 58 | rs758159045 | 0.9839 | -2.957 | 0.739 | N | 0.819 | 0.516 | 0.502939388887 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.8E-05 | None | 0 | 0 | 0 |
F/S | 35186 | Ig-164 | 58 | rs758159045 | 0.9839 | -2.957 | 0.739 | N | 0.819 | 0.516 | 0.502939388887 | gnomAD-4.0.0 | 6.84138E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49696E-06 | 5.79656E-05 | 0 |
L/H | 35344 | Ig-165 | 59 | None | 0.9924 | None | 1.0 | D | 0.913 | 0.892 | 0.932259407414 | gnomAD-4.0.0 | 1.59088E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8575E-06 | 0 | 0 |
L/P | 35662 | Ig-167 | 56 | None | 0.9977 | None | 1.0 | N | 0.902 | 0.742 | 0.88178623801 | 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 |
L/F | 35759 | Ig-168 | 58 | rs1307850517 | 0.4062 | -1.551 | 1.0 | D | 0.802 | 0.712 | 0.715330771395 | 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 |
L/F | 35759 | Ig-168 | 58 | rs1307850517 | 0.4062 | -1.551 | 1.0 | D | 0.802 | 0.712 | 0.715330771395 | gnomAD-4.0.0 | 1.59099E-06 | None | None | None | None | N | None | 0 | 2.28634E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
L/P | 35956 | Ig-169 | 60 | rs267607156 | 0.999 | -1.745 | 1.0 | D | 0.895 | 0.788 | 0.873153760803 | Hackman (2002) Rudloff (2015) | None | TMD LGMD2J | het | None | -0.747(OBSL1) -0.71(OBSCN) | N | Genetic analysis of single FRA family; co-segregates within family (n = 3, 3 affected (7 total)); Severe misfolding of domain; eliminates binding to OBSCN-Ig1; low expression; monomeric | None | None | None | None | None | None | None | None | None | None | None |
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.