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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
21559 | 1 | A/D | 1 | rs1191282845 | 0.1646 | None | gnomAD-2.1.1 | 4.05E-06 | |
21559 | 1 | A/D | 1 | rs1191282845 | 0.1646 | None | gnomAD-4.0.0 | 4.10763E-06 | |
21559 | 1 | A/G | 1 | rs1191282845 | 0.1646 | None | gnomAD-3.1.2 | 1.32E-05 | |
21559 | 1 | A/G | 1 | rs1191282845 | 0.1646 | None | gnomAD-4.0.0 | 3.10028E-06 | |
21559 | 1 | A/T | 1 | rs1182073050 | 0.1646 | None | gnomAD-2.1.1 | 3.19E-05 | |
21559 | 1 | A/T | 1 | rs1182073050 | 0.1646 | None | gnomAD-3.1.2 | 6.58E-06 | |
21559 | 1 | A/T | 1 | rs1182073050 | 0.1646 | None | gnomAD-4.0.0 | 6.5767E-06 | |
21559 | 1 | A/V | 1 | None | 0.1646 | None | gnomAD-4.0.0 | 2.05381E-06 | |
21561 | 3 | G/S | 3 | rs200355808 | 0.2015 | None | gnomAD-2.1.1 | 4.67E-05 | |
21561 | 3 | G/S | 3 | rs200355808 | 0.2015 | None | gnomAD-3.1.2 | 5.27E-05 | |
21561 | 3 | G/S | 3 | rs200355808 | 0.2015 | None | 1000 genomes | 3.99361E-04 | |
21561 | 3 | G/S | 3 | rs200355808 | 0.2015 | None | gnomAD-4.0.0 | 3.78214E-05 | |
21561 | 3 | G/V | 3 | rs111829923 | 0.2015 | None | gnomAD-2.1.1 | 1.22E-05 | |
21561 | 3 | G/V | 3 | rs111829923 | 0.2015 | None | gnomAD-3.1.2 | 1.32E-05 | |
21561 | 3 | G/V | 3 | rs111829923 | 0.2015 | None | gnomAD-4.0.0 | 1.17795E-05 | |
21562 | 4 | P/L | 4 | None | 0.3925 | None | gnomAD-4.0.0 | 6.84508E-07 | |
21562 | 4 | P/R | 4 | rs1213776805 | 0.3925 | None | gnomAD-3.1.2 | 6.57E-06 | |
21562 | 4 | P/R | 4 | rs1213776805 | 0.3925 | None | gnomAD-4.0.0 | 6.57497E-06 | |
21563 | 5 | P/A | 5 | rs72646860 | 0.0886 | None | gnomAD-2.1.1 | 2.16E-05 | |
21563 | 5 | P/A | 5 | rs72646860 | 0.0886 | None | gnomAD-3.1.2 | 3.29E-05 | |
21563 | 5 | P/A | 5 | rs72646860 | 0.0886 | None | gnomAD-4.0.0 | 1.36389E-05 | |
21563 | 5 | P/H | 5 | rs751700216 | 0.0886 | None | gnomAD-2.1.1 | 4.05E-06 | |
21563 | 5 | P/H | 5 | rs751700216 | 0.0886 | None | gnomAD-4.0.0 | 6.84533E-07 | |
21563 | 5 | P/L | 5 | rs751700216 | 0.0886 | None | gnomAD-2.1.1 | 3.19E-05 | |
21563 | 5 | P/L | 5 | rs751700216 | 0.0886 | None | gnomAD-3.1.2 | 6.57E-06 | |
21563 | 5 | P/L | 5 | rs751700216 | 0.0886 | None | gnomAD-4.0.0 | 6.57367E-06 | |
21563 | 5 | P/R | 5 | None | 0.0886 | None | gnomAD-2.1.1 | 8.1E-06 | |
21563 | 5 | P/R | 5 | None | 0.0886 | None | gnomAD-4.0.0 | 2.0536E-06 | |
21563 | 5 | P/T | 5 | None | 0.0886 | None | gnomAD-2.1.1 | 3.19E-05 | |
21563 | 5 | P/T | 5 | None | 0.0886 | None | gnomAD-4.0.0 | 3.42249E-06 | |
21564 | 6 | Q/L | 6 | None | 0.2154 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21565 | 7 | P/T | 7 | rs780636947 | 0.4912 | None | gnomAD-2.1.1 | 4.05E-06 | |
21565 | 7 | P/T | 7 | rs780636947 | 0.4912 | None | gnomAD-3.1.2 | 6.57E-06 | |
21567 | 9 | F/S | 9 | None | 0.1208 | None | gnomAD-4.0.0 | 1.59249E-06 | |
21569 | 11 | I/V | 12 | None | 0.2481 | None | gnomAD-4.0.0 | 1.59246E-06 | |
21571 | 13 | D/N | 14 | rs750771623 | 0.5662 | None | gnomAD-2.1.1 | 4.04E-06 | |
21571 | 13 | D/N | 14 | rs750771623 | 0.5662 | None | gnomAD-4.0.0 | 4.77737E-06 | |
21572 | 14 | I/T | 15 | rs765749707 | 0.2910 | None | gnomAD-2.1.1 | 1.79E-05 | |
21572 | 14 | I/T | 15 | rs765749707 | 0.2910 | None | gnomAD-3.1.2 | 2.63E-05 | |
21572 | 14 | I/T | 15 | rs765749707 | 0.2910 | None | gnomAD-4.0.0 | 9.91821E-06 | |
21572 | 14 | I/V | 15 | None | 0.2910 | None | gnomAD-4.0.0 | 3.60097E-06 | |
21573 | 15 | D/E | 16 | rs727504967 | 0.2778 | None | gnomAD-2.1.1 | 4.04E-06 | |
21573 | 15 | D/E | 16 | rs727504967 | 0.2778 | None | gnomAD-4.0.0 | 6.84424E-07 | |
21573 | 15 | D/H | 16 | rs760347376 | 0.2778 | None | gnomAD-2.1.1 | 4.04E-06 | |
21573 | 15 | D/H | 16 | rs760347376 | 0.2778 | None | gnomAD-4.0.0 | 6.36955E-06 | |
21574 | 16 | A/T | 17 | rs578085621 | 0.1856 | None | gnomAD-2.1.1 | 9.32E-05 | |
21574 | 16 | A/T | 17 | rs578085621 | 0.1856 | None | gnomAD-3.1.2 | 2.63E-05 | |
21574 | 16 | A/T | 17 | rs578085621 | 0.1856 | None | 1000 genomes | 1.99681E-04 | |
21574 | 16 | A/T | 17 | rs578085621 | 0.1856 | None | gnomAD-4.0.0 | 3.03749E-05 | |
21575 | 17 | D/N | 18 | rs1410308363 | 0.5152 | None | gnomAD-2.1.1 | 4.04E-06 | |
21575 | 17 | D/N | 18 | rs1410308363 | 0.5152 | None | gnomAD-4.0.0 | 4.7908E-06 | |
21577 | 19 | C/W | 20 | None | 0.0906 | None | gnomAD-4.0.0 | 6.84407E-07 | |
21578 | 20 | S/C | 21 | None | 0.1592 | None | gnomAD-4.0.0 | 1.59234E-06 | |
21578 | 20 | S/P | 21 | None | 0.1592 | None | gnomAD-4.0.0 | 1.59231E-06 | |
21580 | 22 | S/L | 23 | None | 0.2653 | None | gnomAD-4.0.0 | 6.84394E-07 | |
21581 | 23 | W/R | 24 | rs1455212617 | 0.1023 | None | gnomAD-2.1.1 | 4.03E-06 | |
21581 | 23 | W/R | 24 | rs1455212617 | 0.1023 | None | gnomAD-4.0.0 | 1.11459E-05 | |
21582 | 24 | H/R | 25 | rs770805220 | 0.5131 | None | gnomAD-2.1.1 | 4.03E-06 | |
21582 | 24 | H/R | 25 | rs770805220 | 0.5131 | None | gnomAD-4.0.0 | 1.59222E-06 | |
21584 | 26 | P/S | 27 | rs762924797 | 0.1346 | None | gnomAD-2.1.1 | 4.03E-06 | |
21584 | 26 | P/S | 27 | rs762924797 | 0.1346 | None | gnomAD-4.0.0 | 1.59223E-06 | |
21584 | 26 | P/T | 27 | rs762924797 | 0.1346 | None | gnomAD-4.0.0 | 1.59223E-06 | |
21585 | 27 | L/M | 28 | rs772957708 | 0.9120 | None | gnomAD-2.1.1 | 4.03E-06 | |
21586 | 28 | E/A | 29 | rs2048580704 | 0.6860 | None | gnomAD-4.0.0 | 3.1844E-06 | |
21587 | 29 | D/G | 30 | None | 0.3140 | None | gnomAD-4.0.0 | 1.59218E-06 | |
21588 | 30 | G/A | 31 | None | 0.1238 | None | gnomAD-4.0.0 | 3.60097E-06 | |
21588 | 30 | G/R | 31 | rs181717727 | 0.1238 | None | gnomAD-2.1.1 | 8.65937E-04 | |
21588 | 30 | G/R | 31 | rs181717727 | 0.1238 | None | gnomAD-3.1.2 | 2.48E-03 | |
21588 | 30 | G/R | 31 | rs181717727 | 0.1238 | None | 1000 genomes | 3.19489E-03 | |
21588 | 30 | G/R | 31 | rs181717727 | 0.1238 | None | gnomAD-4.0.0 | 6.17981E-04 | |
21590 | 32 | S/G | 33 | rs768922798 | 0.1792 | None | gnomAD-2.1.1 | 4.03E-06 | |
21590 | 32 | S/G | 33 | rs768922798 | 0.1792 | None | gnomAD-4.0.0 | 1.59209E-06 | |
21590 | 32 | S/N | 33 | rs972890341 | 0.1792 | None | gnomAD-2.1.1 | 8.06E-06 | |
21590 | 32 | S/N | 33 | rs972890341 | 0.1792 | None | gnomAD-4.0.0 | 4.10619E-06 | |
21591 | 33 | N/Y | 34 | None | 0.9176 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21592 | 34 | I/F | 35 | rs727503581 | 0.2373 | None | gnomAD-2.1.1 | 4.03E-06 | |
21592 | 34 | I/F | 35 | rs727503581 | 0.2373 | None | gnomAD-4.0.0 | 6.84358E-07 | |
21592 | 34 | I/N | 35 | None | 0.2373 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21592 | 34 | I/V | 35 | rs727503581 | 0.2373 | None | gnomAD-2.1.1 | 1.61E-05 | |
21592 | 34 | I/V | 35 | rs727503581 | 0.2373 | None | gnomAD-4.0.0 | 8.21229E-06 | |
21593 | 35 | T/I | 36 | None | 0.4010 | None | gnomAD-4.0.0 | 2.40064E-06 | |
21593 | 35 | T/P | 36 | rs745369313 | 0.4010 | None | gnomAD-2.1.1 | 8.06E-06 | |
21593 | 35 | T/P | 36 | rs745369313 | 0.4010 | None | gnomAD-4.0.0 | 8.89661E-06 | |
21594 | 36 | N/K | 37 | None | 0.1758 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21595 | 37 | Y/C | 38 | rs2048575709 | 0.1075 | None | gnomAD-3.1.2 | 6.58E-06 | |
21595 | 37 | Y/C | 38 | rs2048575709 | 0.1075 | None | gnomAD-4.0.0 | 6.58155E-06 | |
21596 | 38 | I/R | 39 | None | 0.2013 | None | gnomAD-4.0.0 | 6.84363E-07 | |
21596 | 38 | I/T | 39 | rs779333272 | 0.2013 | None | gnomAD-2.1.1 | 4.03E-06 | |
21596 | 38 | I/T | 39 | rs779333272 | 0.2013 | None | gnomAD-4.0.0 | 6.84363E-07 | |
21597 | 39 | V/A | 40 | rs1374577570 | 0.0999 | None | gnomAD-2.1.1 | 4.03E-06 | |
21597 | 39 | V/A | 40 | rs1374577570 | 0.0999 | None | gnomAD-4.0.0 | 1.59207E-06 | |
21597 | 39 | V/E | 40 | None | 0.0999 | None | gnomAD-4.0.0 | 1.59207E-06 | |
21597 | 39 | V/L | 40 | rs150661999 | 0.0999 | None | gnomAD-2.1.1 | 4.03E-06 | |
21597 | 39 | V/L | 40 | rs150661999 | 0.0999 | None | gnomAD-4.0.0 | 6.8436E-07 | |
21597 | 39 | V/M | 40 | rs150661999 | 0.0999 | None | gnomAD-2.1.1 | 3.40481E-03 | |
21597 | 39 | V/M | 40 | rs150661999 | 0.0999 | None | gnomAD-3.1.2 | 1.76969E-03 | |
21597 | 39 | V/M | 40 | rs150661999 | 0.0999 | None | 1000 genomes | 5.99042E-03 | |
21597 | 39 | V/M | 40 | rs150661999 | 0.0999 | None | gnomAD-4.0.0 | 2.18863E-03 | |
21598 | 40 | E/G | 41 | rs1310732379 | 0.1425 | None | gnomAD-2.1.1 | 4.03E-06 | |
21598 | 40 | E/G | 41 | rs1310732379 | 0.1425 | None | gnomAD-4.0.0 | 1.59205E-06 | |
21598 | 40 | E/K | 41 | None | 0.1425 | None | gnomAD-4.0.0 | 1.59205E-06 | |
21599 | 41 | K/R | 42 | None | 0.2446 | None | gnomAD-4.0.0 | 1.59204E-06 | |
21600 | 42 | C/R | 43 | rs1436243584 | 0.0797 | None | gnomAD-2.1.1 | 4.03E-06 | |
21600 | 42 | C/R | 43 | rs1436243584 | 0.0797 | None | gnomAD-4.0.0 | 1.36869E-06 | |
21602 | 44 | V/I | 50 | None | 0.3297 | None | gnomAD-4.0.0 | 6.84345E-07 | |
21602 | 44 | V/L | 50 | rs2048571659 | 0.3297 | None | gnomAD-4.0.0 | 4.10606E-06 | |
21603 | 45 | S/C | 54 | None | 0.4696 | None | gnomAD-4.0.0 | 1.59195E-06 | |
21604 | 46 | R/G | 60 | rs767011515 | 0.5261 | None | gnomAD-2.1.1 | 8.05E-06 | |
21604 | 46 | R/G | 60 | rs767011515 | 0.5261 | None | gnomAD-4.0.0 | 1.36869E-06 | |
21604 | 46 | R/P | 60 | rs188996850 | 0.5261 | None | gnomAD-4.0.0 | 1.36868E-06 | |
21604 | 46 | R/Q | 60 | rs188996850 | 0.5261 | None | gnomAD-2.1.1 | 1.07279E-04 | |
21604 | 46 | R/Q | 60 | rs188996850 | 0.5261 | None | gnomAD-3.1.2 | 2.56643E-04 | |
21604 | 46 | R/Q | 60 | rs188996850 | 0.5261 | None | 1000 genomes | 5.99042E-04 | |
21604 | 46 | R/Q | 60 | rs188996850 | 0.5261 | None | gnomAD-4.0.0 | 5.95039E-05 | |
21605 | 47 | G/D | 63 | rs1553632971 | 0.4216 | None | gnomAD-4.0.0 | 2.40064E-06 | |
21606 | 48 | D/H | 64 | rs751046367 | 0.4044 | None | gnomAD-2.1.1 | 7.65E-05 | |
21606 | 48 | D/H | 64 | rs751046367 | 0.4044 | None | gnomAD-3.1.2 | 3.29E-05 | |
21606 | 48 | D/H | 64 | rs751046367 | 0.4044 | None | gnomAD-4.0.0 | 2.60341E-05 | |
21607 | 49 | W/C | 65 | None | 0.3052 | None | gnomAD-4.0.0 | 1.59198E-06 | |
21608 | 50 | V/I | 66 | None | 0.4707 | None | gnomAD-4.0.0 | 1.59195E-06 | |
21609 | 51 | T/A | 67 | None | 0.4374 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21609 | 51 | T/M | 67 | rs765913263 | 0.4374 | None | gnomAD-2.1.1 | 1.79E-05 | |
21609 | 51 | T/M | 67 | rs765913263 | 0.4374 | None | gnomAD-3.1.2 | 1.32E-05 | |
21609 | 51 | T/M | 67 | rs765913263 | 0.4374 | None | gnomAD-4.0.0 | 1.23974E-05 | |
21612 | 54 | A/G | 70 | rs535324559 | 0.4567 | None | gnomAD-2.1.1 | 4.03E-06 | |
21612 | 54 | A/G | 70 | rs535324559 | 0.4567 | None | gnomAD-3.1.2 | 6.58E-06 | |
21612 | 54 | A/G | 70 | rs535324559 | 0.4567 | None | 1000 genomes | 1.99681E-04 | |
21612 | 54 | A/G | 70 | rs535324559 | 0.4567 | None | gnomAD-4.0.0 | 6.57445E-06 | |
21612 | 54 | A/V | 70 | rs535324559 | 0.4567 | None | gnomAD-2.1.1 | 4.03E-06 | |
21612 | 54 | A/V | 70 | rs535324559 | 0.4567 | None | gnomAD-4.0.0 | 1.5919E-06 | |
21614 | 56 | V/F | 77 | rs1255799944 | 0.1338 | None | gnomAD-2.1.1 | 4.03E-06 | |
21614 | 56 | V/F | 77 | rs1255799944 | 0.1338 | None | gnomAD-4.0.0 | 1.36865E-06 | |
21615 | 57 | T/I | 83 | None | 0.7215 | None | gnomAD-4.0.0 | 3.60097E-06 | |
21616 | 58 | K/E | 88 | rs761445537 | 0.7815 | None | gnomAD-2.1.1 | 8.05E-06 | |
21616 | 58 | K/E | 88 | rs761445537 | 0.7815 | None | gnomAD-3.1.2 | 6.58E-06 | |
21616 | 58 | K/E | 88 | rs761445537 | 0.7815 | None | gnomAD-4.0.0 | 8.97105E-06 | |
21617 | 59 | T/I | 89 | rs1455243319 | 0.2429 | None | gnomAD-2.1.1 | 3.19E-05 | |
21617 | 59 | T/I | 89 | rs1455243319 | 0.2429 | None | gnomAD-3.1.2 | 6.58E-06 | |
21617 | 59 | T/I | 89 | rs1455243319 | 0.2429 | None | gnomAD-4.0.0 | 6.57704E-06 | |
21619 | 61 | C/R | 91 | rs1486149342 | 0.1682 | None | gnomAD-2.1.1 | 4.03E-06 | |
21619 | 61 | C/R | 91 | rs1486149342 | 0.1682 | None | gnomAD-4.0.0 | 1.59185E-06 | |
21619 | 61 | C/W | 91 | None | 0.1682 | None | gnomAD-4.0.0 | 1.59185E-06 | |
21620 | 62 | R/K | 92 | rs776516784 | 0.4275 | None | gnomAD-2.1.1 | 2.42E-05 | |
21620 | 62 | R/K | 92 | rs776516784 | 0.4275 | None | gnomAD-4.0.0 | 9.55122E-06 | |
21620 | 62 | R/S | 92 | rs373713828 | 0.4275 | None | gnomAD-2.1.1 | 8.05E-06 | |
21620 | 62 | R/S | 92 | rs373713828 | 0.4275 | None | gnomAD-3.1.2 | 6.58E-06 | |
21620 | 62 | R/S | 92 | rs373713828 | 0.4275 | None | gnomAD-4.0.0 | 6.84321E-07 | |
21621 | 63 | V/A | 93 | None | 0.1966 | None | gnomAD-4.0.0 | 1.59185E-06 | |
21621 | 63 | V/F | 93 | None | 0.1966 | None | gnomAD-4.0.0 | 6.00161E-06 | |
21624 | 66 | L/P | 97 | rs2048563467 | 0.1096 | None | gnomAD-3.1.2 | 6.57E-06 | |
21624 | 66 | L/P | 97 | rs2048563467 | 0.1096 | None | gnomAD-4.0.0 | 6.57445E-06 | |
21625 | 67 | I/N | 98 | None | 0.5615 | None | gnomAD-4.0.0 | 2.05297E-06 | |
21625 | 67 | I/T | 98 | rs1318752166 | 0.5615 | None | gnomAD-2.1.1 | 4.02E-06 | |
21625 | 67 | I/T | 98 | rs1318752166 | 0.5615 | None | gnomAD-4.0.0 | 6.84322E-07 | |
21626 | 68 | P/L | 99 | None | 0.4769 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21626 | 68 | P/T | 99 | rs2048562251 | 0.4769 | None | gnomAD-3.1.2 | 6.58E-06 | |
21626 | 68 | P/T | 99 | rs2048562251 | 0.4769 | None | gnomAD-4.0.0 | 6.57739E-06 | |
21627 | 69 | G/V | 100 | rs2154180072 | 0.3817 | None | gnomAD-4.0.0 | 2.05299E-06 | |
21628 | 70 | Q/H | 102 | rs772347925 | 0.2392 | None | gnomAD-4.0.0 | 1.36865E-06 | |
21628 | 70 | Q/R | 102 | None | 0.2392 | None | gnomAD-4.0.0 | 5.4746E-06 | |
21629 | 71 | E/A | 103 | None | 0.2478 | None | gnomAD-4.0.0 | 1.59189E-06 | |
21629 | 71 | E/D | 103 | rs779232091 | 0.2478 | None | gnomAD-2.1.1 | 7.15E-06 | |
21629 | 71 | E/D | 103 | rs779232091 | 0.2478 | None | gnomAD-3.1.2 | 1.32E-05 | |
21629 | 71 | E/D | 103 | rs779232091 | 0.2478 | None | gnomAD-4.0.0 | 3.84484E-06 | |
21629 | 71 | E/K | 103 | rs746364765 | 0.2478 | None | gnomAD-2.1.1 | 6.07E-05 | |
21629 | 71 | E/K | 103 | rs746364765 | 0.2478 | None | gnomAD-3.1.2 | 3.29E-05 | |
21629 | 71 | E/K | 103 | rs746364765 | 0.2478 | None | gnomAD-4.0.0 | 1.79749E-05 | |
21631 | 73 | I/L | 105 | rs757787828 | 0.1921 | None | gnomAD-4.0.0 | 3.4216E-06 | |
21631 | 73 | I/M | 105 | None | 0.1921 | None | gnomAD-4.0.0 | 1.59187E-06 | |
21631 | 73 | I/V | 105 | None | 0.1921 | None | gnomAD-4.0.0 | 2.05296E-06 | |
21632 | 74 | F/C | 106 | None | 0.1097 | None | gnomAD-4.0.0 | 1.59188E-06 | |
21632 | 74 | F/V | 106 | None | 0.1097 | None | gnomAD-4.0.0 | 1.59186E-06 | |
21633 | 75 | R/Q | 107 | rs141965360 | 0.1097 | None | gnomAD-2.1.1 | 1.07196E-04 | |
21633 | 75 | R/Q | 107 | rs141965360 | 0.1097 | None | gnomAD-3.1.2 | 1.51272E-04 | |
21633 | 75 | R/Q | 107 | rs141965360 | 0.1097 | None | 1000 genomes | 3.99361E-04 | |
21633 | 75 | R/Q | 107 | rs141965360 | 0.1097 | None | gnomAD-4.0.0 | 6.25987E-05 | |
21633 | 75 | R/W | 107 | rs749576292 | 0.1097 | None | gnomAD-2.1.1 | 7.15E-06 | |
21633 | 75 | R/W | 107 | rs749576292 | 0.1097 | None | gnomAD-3.1.2 | 1.32E-05 | |
21633 | 75 | R/W | 107 | rs749576292 | 0.1097 | None | gnomAD-4.0.0 | 6.19837E-06 | |
21634 | 76 | V/I | 108 | rs1191272248 | 0.0563 | None | gnomAD-3.1.2 | 6.58E-06 | |
21634 | 76 | V/I | 108 | rs1191272248 | 0.0563 | None | gnomAD-4.0.0 | 2.56327E-06 | |
21635 | 77 | R/C | 109 | rs201614524 | 0.1867 | None | gnomAD-2.1.1 | 6.07E-05 | |
21635 | 77 | R/C | 109 | rs201614524 | 0.1867 | None | gnomAD-3.1.2 | 4.6E-05 | |
21635 | 77 | R/C | 109 | rs201614524 | 0.1867 | None | gnomAD-4.0.0 | 1.79751E-05 | |
21635 | 77 | R/H | 109 | rs756768598 | 0.1867 | None | gnomAD-2.1.1 | 1.61E-05 | |
21635 | 77 | R/H | 109 | rs756768598 | 0.1867 | None | gnomAD-4.0.0 | 2.53201E-05 | |
21636 | 78 | A/G | 110 | None | 0.0759 | None | gnomAD-4.0.0 | 1.59192E-06 | |
21636 | 78 | A/T | 110 | rs765859586 | 0.0759 | None | gnomAD-2.1.1 | 8.05E-06 | |
21636 | 78 | A/T | 110 | rs765859586 | 0.0759 | None | gnomAD-4.0.0 | 1.59193E-06 | |
21638 | 80 | N/D | 112 | rs757843701 | 0.0937 | None | gnomAD-2.1.1 | 4.02E-06 | |
21638 | 80 | N/D | 112 | rs757843701 | 0.0937 | None | gnomAD-3.1.2 | 6.58E-06 | |
21638 | 80 | N/D | 112 | rs757843701 | 0.0937 | None | gnomAD-4.0.0 | 4.95873E-06 | |
21638 | 80 | N/K | 112 | None | 0.0937 | None | gnomAD-4.0.0 | 1.59192E-06 | |
21639 | 81 | R/G | 113 | rs1432889079 | 0.5081 | None | gnomAD-4.0.0 | 2.053E-06 | |
21639 | 81 | R/Q | 113 | rs373282633 | 0.5081 | None | gnomAD-2.1.1 | 3.22E-05 | |
21639 | 81 | R/Q | 113 | rs373282633 | 0.5081 | None | gnomAD-3.1.2 | 1.97E-05 | |
21639 | 81 | R/Q | 113 | rs373282633 | 0.5081 | None | gnomAD-4.0.0 | 4.40076E-05 | |
21640 | 82 | F/S | 114 | rs1475736042 | 0.2645 | None | gnomAD-4.0.0 | 6.84326E-07 | |
21640 | 82 | F/Y | 114 | rs1475736042 | 0.2645 | None | gnomAD-2.1.1 | 1.61E-05 | |
21640 | 82 | F/Y | 114 | rs1475736042 | 0.2645 | None | gnomAD-3.1.2 | 6.58E-06 | |
21640 | 82 | F/Y | 114 | rs1475736042 | 0.2645 | None | gnomAD-4.0.0 | 4.33875E-06 | |
21644 | 86 | E/K | 119 | None | 0.5964 | None | gnomAD-4.0.0 | 2.053E-06 | |
21645 | 87 | P/L | 120 | None | 0.2792 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21645 | 87 | P/S | 120 | rs1553632774 | 0.2792 | None | gnomAD-3.1.2 | 6.58E-06 | |
21645 | 87 | P/S | 120 | rs1553632774 | 0.2792 | None | gnomAD-4.0.0 | 2.03023E-06 | |
21646 | 88 | L/F | 121 | rs1203566511 | 0.1332 | None | gnomAD-4.0.0 | 1.59196E-06 | |
21648 | 90 | S/A | 123 | rs765042066 | 0.1229 | None | gnomAD-2.1.1 | 4.03E-06 | |
21648 | 90 | S/A | 123 | rs765042066 | 0.1229 | None | gnomAD-4.0.0 | 1.59195E-06 | |
21648 | 90 | S/F | 123 | rs761835878 | 0.1229 | None | gnomAD-4.0.0 | 3.18386E-06 | |
21649 | 91 | P/L | 124 | rs1220907025 | 0.5677 | None | gnomAD-2.1.1 | 4.03E-06 | |
21649 | 91 | P/L | 124 | rs1220907025 | 0.5677 | None | gnomAD-4.0.0 | 1.59196E-06 | |
21650 | 92 | K/E | 126 | rs2048550217 | 0.4640 | None | gnomAD-4.0.0 | 1.59198E-06 | |
21651 | 93 | M/R | 127 | rs2048549278 | 0.1349 | None | gnomAD-3.1.2 | 6.58E-06 | |
21651 | 93 | M/R | 127 | rs2048549278 | 0.1349 | None | gnomAD-4.0.0 | 6.57635E-06 | |
21651 | 93 | M/T | 127 | rs2048549278 | 0.1349 | None | gnomAD-4.0.0 | 1.36869E-06 | |
21652 | 94 | V/A | 128 | rs1386324100 | 0.3957 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21653 | 95 | A/P | 130 | rs2048548013 | 0.0819 | None | gnomAD-3.1.2 | 6.58E-06 | |
21653 | 95 | A/P | 130 | rs2048548013 | 0.0819 | None | gnomAD-4.0.0 | 1.23971E-06 | |
21653 | 95 | A/T | 130 | None | 0.0819 | None | gnomAD-4.0.0 | 6.84356E-07 | |
21653 | 95 | A/V | 130 | rs1334145229 | 0.0819 | None | gnomAD-2.1.1 | 1.21E-05 | |
21653 | 95 | A/V | 130 | rs1334145229 | 0.0819 | None | gnomAD-4.0.0 | 7.52804E-06 | |
21654 | 96 | Q/R | 132 | rs555785232 | 0.6578 | None | gnomAD-2.1.1 | 4.03E-06 | |
21654 | 96 | Q/R | 132 | rs555785232 | 0.6578 | None | gnomAD-3.1.2 | 6.58E-06 | |
21654 | 96 | Q/R | 132 | rs555785232 | 0.6578 | None | 1000 genomes | 1.99681E-04 | |
21654 | 96 | Q/R | 132 | rs555785232 | 0.6578 | None | gnomAD-4.0.0 | 2.02989E-06 |