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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
21471 | 3 | L/F | 3 | rs774609456 | 0.1503 | None | gnomAD-2.1.1 | 4.44E-05 | |
21471 | 3 | L/F | 3 | rs774609456 | 0.1503 | None | gnomAD-4.0.0 | 2.17757E-05 | |
21472 | 4 | M/I | 4 | rs2048686621 | 0.1129 | None | gnomAD-3.1.2 | 6.58E-06 | |
21472 | 4 | M/I | 4 | rs2048686621 | 0.1129 | None | gnomAD-4.0.0 | 6.57903E-06 | |
21472 | 4 | M/L | 4 | None | 0.1129 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21472 | 4 | M/T | 4 | rs372682546 | 0.1129 | None | gnomAD-2.1.1 | 4.3E-06 | |
21472 | 4 | M/T | 4 | rs372682546 | 0.1129 | None | gnomAD-3.1.2 | 1.32E-05 | |
21472 | 4 | M/T | 4 | rs372682546 | 0.1129 | None | gnomAD-4.0.0 | 5.27016E-06 | |
21476 | 8 | I/L | 13 | rs898981554 | 0.2897 | None | gnomAD-2.1.1 | 4.09E-06 | |
21476 | 8 | I/L | 13 | rs898981554 | 0.2897 | None | gnomAD-4.0.0 | 2.05911E-06 | |
21478 | 10 | I/M | 16 | None | 0.1656 | None | gnomAD-4.0.0 | 1.59992E-06 | |
21478 | 10 | I/V | 16 | None | 0.1656 | None | gnomAD-4.0.0 | 6.85842E-06 | |
21480 | 12 | A/T | 23 | None | 0.3472 | None | gnomAD-4.0.0 | 6.85782E-07 | |
21481 | 13 | G/A | 24 | None | 0.3921 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21481 | 13 | G/R | 24 | rs1341234616 | 0.3921 | None | gnomAD-2.1.1 | 4.05E-06 | |
21481 | 13 | G/R | 24 | rs1341234616 | 0.3921 | None | gnomAD-4.0.0 | 1.02826E-05 | |
21482 | 14 | K/E | 25 | rs113935908 | 0.6337 | None | gnomAD-4.0.0 | 2.74144E-06 | |
21482 | 14 | K/N | 25 | rs1232234781 | 0.6337 | None | gnomAD-2.1.1 | 4.05E-06 | |
21482 | 14 | K/N | 25 | rs1232234781 | 0.6337 | None | gnomAD-4.0.0 | 1.59755E-06 | |
21483 | 15 | K/I | 26 | None | 0.5285 | None | gnomAD-4.0.0 | 6.85315E-07 | |
21483 | 15 | K/R | 26 | rs1368411917 | 0.5285 | None | gnomAD-2.1.1 | 8.1E-06 | |
21483 | 15 | K/R | 26 | rs1368411917 | 0.5285 | None | gnomAD-4.0.0 | 2.05595E-06 | |
21484 | 16 | L/P | 28 | None | 0.1729 | None | gnomAD-4.0.0 | 1.59651E-06 | |
21484 | 16 | L/V | 28 | None | 0.1729 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21485 | 17 | R/Q | 29 | rs746903647 | 0.4055 | None | gnomAD-2.1.1 | 2.43E-05 | |
21485 | 17 | R/Q | 29 | rs746903647 | 0.4055 | None | gnomAD-3.1.2 | 1.32E-05 | |
21485 | 17 | R/Q | 29 | rs746903647 | 0.4055 | None | gnomAD-4.0.0 | 2.66823E-05 | |
21486 | 18 | I/F | 30 | rs779988742 | 0.1310 | None | gnomAD-2.1.1 | 4.05E-06 | |
21486 | 18 | I/F | 30 | rs779988742 | 0.1310 | None | gnomAD-3.1.2 | 6.58E-06 | |
21486 | 18 | I/F | 30 | rs779988742 | 0.1310 | None | gnomAD-4.0.0 | 4.96352E-06 | |
21486 | 18 | I/N | 30 | None | 0.1310 | None | gnomAD-4.0.0 | 4.79534E-06 | |
21486 | 18 | I/T | 30 | None | 0.1310 | None | gnomAD-4.0.0 | 6.85048E-07 | |
21487 | 19 | E/D | 31 | rs2048679694 | 0.3466 | None | gnomAD-3.1.2 | 6.58E-06 | |
21487 | 19 | E/D | 31 | rs2048679694 | 0.3466 | None | gnomAD-4.0.0 | 2.56766E-06 | |
21487 | 19 | E/K | 31 | rs1485546407 | 0.3466 | None | gnomAD-3.1.2 | 1.32E-05 | |
21487 | 19 | E/K | 31 | rs1485546407 | 0.3466 | None | gnomAD-4.0.0 | 4.96307E-06 | |
21488 | 20 | A/D | 33 | None | 0.1083 | None | gnomAD-4.0.0 | 2.40065E-06 | |
21488 | 20 | A/S | 33 | rs374992146 | 0.1083 | None | gnomAD-2.1.1 | 4.04E-06 | |
21488 | 20 | A/S | 33 | rs374992146 | 0.1083 | None | gnomAD-4.0.0 | 1.59512E-06 | |
21488 | 20 | A/T | 33 | rs374992146 | 0.1083 | None | gnomAD-2.1.1 | 4.04E-06 | |
21488 | 20 | A/T | 33 | rs374992146 | 0.1083 | None | gnomAD-4.0.0 | 1.59512E-06 | |
21489 | 21 | H/Q | 34 | rs533088470 | 0.4109 | None | gnomAD-2.1.1 | 3.19E-05 | |
21489 | 21 | H/Q | 34 | rs533088470 | 0.4109 | None | gnomAD-3.1.2 | 6.58E-06 | |
21489 | 21 | H/Q | 34 | rs533088470 | 0.4109 | None | gnomAD-4.0.0 | 6.5773E-06 | |
21489 | 21 | H/R | 34 | None | 0.4109 | None | gnomAD-4.0.0 | 1.5938E-06 | |
21489 | 21 | H/Y | 34 | rs1412094100 | 0.4109 | None | gnomAD-2.1.1 | 8.07E-06 | |
21489 | 21 | H/Y | 34 | rs1412094100 | 0.4109 | None | gnomAD-4.0.0 | 6.84695E-06 | |
21490 | 22 | V/A | 35 | None | 0.1452 | None | gnomAD-4.0.0 | 1.59329E-06 | |
21490 | 22 | V/L | 35 | rs138858121 | 0.1452 | None | gnomAD-2.1.1 | 8.06E-06 | |
21490 | 22 | V/L | 35 | rs138858121 | 0.1452 | None | gnomAD-3.1.2 | 6.58E-06 | |
21490 | 22 | V/L | 35 | rs138858121 | 0.1452 | None | 1000 genomes | 1.99681E-04 | |
21490 | 22 | V/L | 35 | rs138858121 | 0.1452 | None | gnomAD-4.0.0 | 3.84789E-06 | |
21491 | 23 | Y/C | 38 | rs757450750 | 0.2413 | None | gnomAD-2.1.1 | 2.86E-05 | |
21491 | 23 | Y/C | 38 | rs757450750 | 0.2413 | None | gnomAD-3.1.2 | 1.32E-05 | |
21491 | 23 | Y/C | 38 | rs757450750 | 0.2413 | None | gnomAD-4.0.0 | 1.2821E-05 | |
21492 | 24 | G/E | 40 | rs879135883 | 0.1709 | None | gnomAD-3.1.2 | 1.97E-05 | |
21492 | 24 | G/E | 40 | rs879135883 | 0.1709 | None | gnomAD-4.0.0 | 5.0755E-06 | |
21492 | 24 | G/R | 40 | None | 0.1709 | None | gnomAD-4.0.0 | 1.20033E-06 | |
21494 | 26 | P/L | 42 | rs587780492 | 0.4361 | None | gnomAD-2.1.1 | 1.79E-05 | |
21494 | 26 | P/L | 42 | rs587780492 | 0.4361 | None | gnomAD-3.1.2 | 1.32E-05 | |
21494 | 26 | P/L | 42 | rs587780492 | 0.4361 | None | gnomAD-4.0.0 | 2.54172E-05 | |
21495 | 27 | H/Y | 43 | None | 0.8688 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21496 | 28 | P/A | 44 | None | 0.2010 | None | gnomAD-4.0.0 | 6.84413E-07 | |
21496 | 28 | P/R | 44 | rs764155651 | 0.2010 | None | gnomAD-2.1.1 | 4.03E-06 | |
21496 | 28 | P/R | 44 | rs764155651 | 0.2010 | None | gnomAD-4.0.0 | 1.5924E-06 | |
21496 | 28 | P/S | 44 | rs1174418465 | 0.2010 | None | gnomAD-2.1.1 | 8.06E-06 | |
21496 | 28 | P/S | 44 | rs1174418465 | 0.2010 | None | gnomAD-4.0.0 | 1.36883E-06 | |
21497 | 29 | T/I | 45 | rs1236376736 | 0.6612 | None | gnomAD-2.1.1 | 4.03E-06 | |
21497 | 29 | T/I | 45 | rs1236376736 | 0.6612 | None | gnomAD-4.0.0 | 1.36883E-06 | |
21498 | 30 | C/Y | 46 | rs752724337 | 0.2833 | None | gnomAD-2.1.1 | 8.06E-06 | |
21498 | 30 | C/Y | 46 | rs752724337 | 0.2833 | None | gnomAD-4.0.0 | 1.59235E-05 | |
21500 | 32 | W/R | 48 | rs2048669165 | 0.1779 | None | gnomAD-3.1.2 | 6.59E-06 | |
21500 | 32 | W/R | 48 | rs2048669165 | 0.1779 | None | gnomAD-4.0.0 | 6.58831E-06 | |
21501 | 33 | K/I | 49 | rs1251141163 | 0.3020 | None | gnomAD-2.1.1 | 4.03E-06 | |
21501 | 33 | K/I | 49 | rs1251141163 | 0.3020 | None | gnomAD-4.0.0 | 1.59228E-06 | |
21502 | 34 | K/E | 50 | rs1199736147 | 0.2551 | None | gnomAD-2.1.1 | 1.21E-05 | |
21502 | 34 | K/E | 50 | rs1199736147 | 0.2551 | None | gnomAD-4.0.0 | 4.77681E-06 | |
21503 | 35 | G/E | 51 | rs768027450 | 0.3741 | None | gnomAD-2.1.1 | 4.03E-06 | |
21503 | 35 | G/E | 51 | rs768027450 | 0.3741 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21503 | 35 | G/R | 51 | rs1559535271 | 0.3741 | None | gnomAD-2.1.1 | 4.03E-06 | |
21503 | 35 | G/R | 51 | rs1559535271 | 0.3741 | None | gnomAD-4.0.0 | 1.59229E-06 | |
21503 | 35 | G/V | 51 | None | 0.3741 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21505 | 37 | D/N | 55 | None | 0.7556 | None | gnomAD-4.0.0 | 1.20033E-06 | |
21507 | 39 | V/F | 58 | None | 0.2245 | None | gnomAD-4.0.0 | 2.40064E-06 | |
21507 | 39 | V/L | 58 | None | 0.2245 | None | gnomAD-4.0.0 | 6.00161E-06 | |
21508 | 40 | V/F | 59 | None | 0.7903 | None | gnomAD-4.0.0 | 2.73761E-06 | |
21508 | 40 | V/I | 59 | rs759982511 | 0.7903 | None | gnomAD-2.1.1 | 1.61E-05 | |
21508 | 40 | V/I | 59 | rs759982511 | 0.7903 | None | gnomAD-3.1.2 | 6.57E-06 | |
21508 | 40 | V/I | 59 | rs759982511 | 0.7903 | None | gnomAD-4.0.0 | 3.90521E-05 | |
21509 | 41 | T/I | 70 | None | 0.6060 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21510 | 42 | S/P | 73 | None | 0.3246 | None | gnomAD-4.0.0 | 1.59229E-06 | |
21511 | 43 | S/R | 109 | None | 0.7758 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21512 | 44 | H/L | 115 | rs774754081 | 0.3456 | None | gnomAD-2.1.1 | 1.79E-05 | |
21512 | 44 | H/L | 115 | rs774754081 | 0.3456 | None | gnomAD-3.1.2 | 6.57E-05 | |
21512 | 44 | H/L | 115 | rs774754081 | 0.3456 | None | gnomAD-4.0.0 | 1.17773E-05 | |
21514 | 46 | A/V | 122 | rs1060500520 | 0.2371 | None | gnomAD-4.0.0 | 2.05314E-06 | |
21515 | 47 | V/A | 123 | rs1443712213 | 0.2605 | None | gnomAD-2.1.1 | 4.03E-06 | |
21515 | 47 | V/A | 123 | rs1443712213 | 0.2605 | None | gnomAD-4.0.0 | 1.59217E-06 | |
21515 | 47 | V/L | 123 | None | 0.2605 | None | gnomAD-4.0.0 | 1.59219E-06 | |
21515 | 47 | V/M | 123 | rs1277307313 | 0.2605 | None | gnomAD-2.1.1 | 4.03E-06 | |
21515 | 47 | V/M | 123 | rs1277307313 | 0.2605 | None | gnomAD-4.0.0 | 1.59219E-06 | |
21518 | 50 | A/P | 130 | None | 0.4103 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21519 | 51 | D/E | 131 | rs1336928920 | 1.0201 | None | gnomAD-2.1.1 | 4.03E-06 | |
21519 | 51 | D/E | 131 | rs1336928920 | 1.0201 | None | gnomAD-4.0.0 | 6.84384E-07 | |
21521 | 53 | S/F | 135 | rs766887868 | 0.2266 | None | gnomAD-2.1.1 | 4.03E-06 | |
21521 | 53 | S/F | 135 | rs766887868 | 0.2266 | None | gnomAD-4.0.0 | 1.59226E-06 | |
21523 | 55 | I/V | 137 | rs761550336 | 0.1563 | None | gnomAD-2.1.1 | 8.06E-06 | |
21523 | 55 | I/V | 137 | rs761550336 | 0.1563 | None | gnomAD-4.0.0 | 1.11455E-05 | |
21524 | 56 | L/V | 138 | rs1378663120 | 0.0902 | None | gnomAD-2.1.1 | 8.06E-06 | |
21524 | 56 | L/V | 138 | rs1378663120 | 0.0902 | None | gnomAD-4.0.0 | 3.18443E-06 | |
21526 | 58 | I/T | 140 | rs776476433 | 0.1052 | None | gnomAD-2.1.1 | 1.21E-05 | |
21526 | 58 | I/T | 140 | rs776476433 | 0.1052 | None | gnomAD-4.0.0 | 3.42188E-06 | |
21526 | 58 | I/V | 140 | rs1160431016 | 0.1052 | None | gnomAD-2.1.1 | 4.03E-06 | |
21526 | 58 | I/V | 140 | rs1160431016 | 0.1052 | None | gnomAD-4.0.0 | 1.59227E-06 | |
21528 | 60 | D/N | 143 | rs2048653243 | 0.7389 | None | gnomAD-3.1.2 | 6.58E-06 | |
21528 | 60 | D/N | 143 | rs2048653243 | 0.7389 | None | gnomAD-4.0.0 | 5.12722E-06 | |
21530 | 62 | T/N | 145 | None | 0.3408 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21532 | 64 | K/E | 148 | rs794729477 | 0.8869 | None | gnomAD-2.1.1 | 1.21E-05 | |
21532 | 64 | K/E | 148 | rs794729477 | 0.8869 | None | gnomAD-4.0.0 | 9.55338E-06 | |
21533 | 65 | D/Y | 149 | rs1484580543 | 0.1750 | None | gnomAD-2.1.1 | 4.03E-06 | |
21533 | 65 | D/Y | 149 | rs1484580543 | 0.1750 | None | gnomAD-4.0.0 | 1.59231E-06 | |
21534 | 66 | S/G | 151 | rs768431801 | 0.2764 | None | gnomAD-2.1.1 | 4.03E-06 | |
21535 | 67 | G/S | 152 | rs746465231 | 0.2535 | None | gnomAD-2.1.1 | 8.06E-06 | |
21535 | 67 | G/S | 152 | rs746465231 | 0.2535 | None | gnomAD-3.1.2 | 6.58E-06 | |
21535 | 67 | G/S | 152 | rs746465231 | 0.2535 | None | gnomAD-4.0.0 | 1.8597E-06 | |
21536 | 68 | Y/C | 153 | rs551977619 | 0.6146 | None | gnomAD-2.1.1 | 4.03E-06 | |
21536 | 68 | Y/C | 153 | rs551977619 | 0.6146 | None | gnomAD-3.1.2 | 6.57E-06 | |
21536 | 68 | Y/C | 153 | rs551977619 | 0.6146 | None | 1000 genomes | 1.99681E-04 | |
21536 | 68 | Y/C | 153 | rs551977619 | 0.6146 | None | gnomAD-4.0.0 | 6.56797E-06 | |
21536 | 68 | Y/H | 153 | rs1487784985 | 0.6146 | None | gnomAD-2.1.1 | 4.03E-06 | |
21536 | 68 | Y/H | 153 | rs1487784985 | 0.6146 | None | gnomAD-3.1.2 | 6.57E-06 | |
21536 | 68 | Y/H | 153 | rs1487784985 | 0.6146 | None | gnomAD-4.0.0 | 2.47949E-06 | |
21537 | 69 | Y/H | 154 | None | 0.1561 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21538 | 70 | S/G | 155 | rs1297730026 | 0.1887 | None | gnomAD-4.0.0 | 4.7781E-06 | |
21539 | 71 | L/F | 156 | rs1060500431 | 0.0853 | None | gnomAD-3.1.2 | 6.58E-06 | |
21539 | 71 | L/F | 156 | rs1060500431 | 0.0853 | None | gnomAD-4.0.0 | 2.56433E-06 | |
21540 | 72 | T/I | 157 | rs1284135964 | 0.2818 | None | gnomAD-2.1.1 | 4.03E-06 | |
21540 | 72 | T/I | 157 | rs1284135964 | 0.2818 | None | gnomAD-4.0.0 | 1.36907E-06 | |
21540 | 72 | T/R | 157 | None | 0.2818 | None | gnomAD-4.0.0 | 6.84537E-07 | |
21543 | 75 | N/H | 161 | rs745843637 | 0.1134 | None | gnomAD-2.1.1 | 4.03E-06 | |
21543 | 75 | N/H | 161 | rs745843637 | 0.1134 | None | gnomAD-4.0.0 | 1.59374E-06 | |
21543 | 75 | N/K | 161 | rs2048644499 | 0.1134 | None | gnomAD-3.1.2 | 6.57E-06 | |
21543 | 75 | N/K | 161 | rs2048644499 | 0.1134 | None | gnomAD-4.0.0 | 6.57436E-06 | |
21544 | 76 | S/N | 162 | rs1231941272 | 0.6867 | None | gnomAD-2.1.1 | 4.04E-06 | |
21544 | 76 | S/N | 162 | rs1231941272 | 0.6867 | None | gnomAD-4.0.0 | 1.5953E-06 | |
21546 | 78 | G/A | 164 | None | 0.2257 | None | gnomAD-4.0.0 | 1.59653E-06 | |
21546 | 78 | G/R | 164 | None | 0.2257 | None | gnomAD-4.0.0 | 3.60097E-06 | |
21547 | 79 | T/K | 165 | rs528663658 | 0.4775 | None | gnomAD-2.1.1 | 4.04E-06 | |
21547 | 79 | T/K | 165 | rs528663658 | 0.4775 | None | 1000 genomes | 1.99681E-04 | |
21547 | 79 | T/K | 165 | rs528663658 | 0.4775 | None | gnomAD-4.0.0 | 2.40064E-06 | |
21547 | 79 | T/P | 165 | rs1357789824 | 0.4775 | None | gnomAD-2.1.1 | 1.21E-05 | |
21547 | 79 | T/P | 165 | rs1357789824 | 0.4775 | None | gnomAD-4.0.0 | 2.05536E-06 | |
21548 | 80 | D/E | 166 | None | 0.2415 | None | gnomAD-4.0.0 | 1.60851E-06 | |
21548 | 80 | D/Y | 166 | rs749070255 | 0.2415 | None | gnomAD-2.1.1 | 7.26E-06 | |
21548 | 80 | D/Y | 166 | rs749070255 | 0.2415 | None | gnomAD-3.1.2 | 1.31E-05 | |
21548 | 80 | D/Y | 166 | rs749070255 | 0.2415 | None | gnomAD-4.0.0 | 1.43147E-05 | |
21549 | 81 | T/P | 168 | None | 0.3976 | None | gnomAD-4.0.0 | 2.40064E-06 | |
21550 | 82 | Q/H | 169 | None | 0.2235 | None | gnomAD-4.0.0 | 1.61222E-06 | |
21552 | 84 | I/T | 172 | None | 0.0859 | None | gnomAD-4.0.0 | 1.6134E-06 | |
21552 | 84 | I/V | 172 | rs201247592 | 0.0859 | None | gnomAD-2.1.1 | 1.42112E-04 | |
21552 | 84 | I/V | 172 | rs201247592 | 0.0859 | None | gnomAD-3.1.2 | 3.35275E-04 | |
21552 | 84 | I/V | 172 | rs201247592 | 0.0859 | None | 1000 genomes | 1.99681E-04 | |
21552 | 84 | I/V | 172 | rs201247592 | 0.0859 | None | gnomAD-4.0.0 | 5.10788E-05 | |
21554 | 86 | V/G | 174 | None | 0.1307 | None | gnomAD-4.0.0 | 3.22615E-06 | |
21555 | 87 | V/A | 175 | rs756320940 | 0.3085 | None | gnomAD-2.1.1 | 4.11E-06 | |
21555 | 87 | V/A | 175 | rs756320940 | 0.3085 | None | gnomAD-4.0.0 | 1.37635E-06 | |
21555 | 87 | V/L | 175 | None | 0.3085 | None | gnomAD-4.0.0 | 1.61303E-06 | |
21556 | 88 | V/A | 177 | None | 0.1632 | None | gnomAD-4.0.0 | 1.37696E-06 |