10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
K | P | G | P | P | A | A | F | D | I | T | D | V | T | N | E | S | C | L | L | T | W | N | P | P | R | D | D | G | G | S | K | I | T | N | Y | V | V | E | R | R | A | T | D | S | E | V | W | H | K | L | S | S | T | V | K | D | T | N | F | K | A | T | K | L | I | P | N | K | E | Y | I | F | R | V | A | A | E | N | M | Y | G | V | G | E | P | V | Q | A | S | P | I | T | A | K | Y | Q | F | D | P | P | G | P | P | T | R | L | E | P | S | D | I | T | K | D | A | V | T | L | T | W | C | E | P | D | D | D | G | G | S | P | I | T | G | Y | W | V | E | R | L | D | P | D | T | D | K | W | V | R | C | N | K | M | P | V | K | D | T | T | Y | R | V | K | G | L | T | N | K | K | K | Y | R | F | R | V | L | A | E | N | L | A | G | P | G | K | P | S | K | S | T | E | P | I | L | I | K | D | P |
K | P | G | P | P | A | A | F | D | I | T | D | V | T | N | E | S | C | L | L | T | W | N | P | P | R | D | D | G | G | S | K | I | T | N | Y | V | V | E | R | R | A | T | D | S | E | V | W | H | K | L | S | S | T | V | K | D | T | N | F | K | A | T | K | L | I | P | N | K | E | Y | I | F | R | V | A | A | E | N | M | Y | G | V | G | E | P | V | Q | A | S | P | I | T | A | K | Y | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
16352 | 2 | P/T | 2 | rs2056897383 | 0.1309 | None | gnomAD-4.0.0 | 1.59449E-06 | |
16353 | 3 | G/R | 3 | rs374866935 | 0.2666 | None | gnomAD-2.1.1 | 2.44E-05 | |
16353 | 3 | G/R | 3 | rs374866935 | 0.2666 | None | gnomAD-3.1.2 | 3.3E-05 | |
16353 | 3 | G/R | 3 | rs374866935 | 0.2666 | None | gnomAD-4.0.0 | 3.22601E-05 | |
16353 | 3 | G/V | 3 | None | 0.2666 | None | gnomAD-4.0.0 | 2.40064E-06 | |
16354 | 4 | P/S | 4 | rs747402071 | 0.4564 | None | gnomAD-2.1.1 | 3.6E-05 | |
16354 | 4 | P/S | 4 | rs747402071 | 0.4564 | None | gnomAD-3.1.2 | 1.32E-05 | |
16354 | 4 | P/S | 4 | rs747402071 | 0.4564 | None | gnomAD-4.0.0 | 4.71404E-05 | |
16355 | 5 | P/S | 5 | rs762930123 | 0.1327 | None | gnomAD-2.1.1 | 4.05E-06 | |
16355 | 5 | P/S | 5 | rs762930123 | 0.1327 | None | gnomAD-4.0.0 | 2.73867E-06 | |
16355 | 5 | P/T | 5 | rs762930123 | 0.1327 | None | gnomAD-3.1.2 | 6.59E-06 | |
16355 | 5 | P/T | 5 | rs762930123 | 0.1327 | None | gnomAD-4.0.0 | 1.86064E-06 | |
16357 | 7 | A/S | 7 | rs773210401 | 0.5035 | None | gnomAD-2.1.1 | 4.05E-06 | |
16357 | 7 | A/S | 7 | rs773210401 | 0.5035 | None | gnomAD-4.0.0 | 1.59361E-06 | |
16357 | 7 | A/V | 7 | rs199768159 | 0.5035 | None | gnomAD-2.1.1 | 2.52E-05 | |
16357 | 7 | A/V | 7 | rs199768159 | 0.5035 | None | gnomAD-3.1.2 | 7.9E-05 | |
16357 | 7 | A/V | 7 | rs199768159 | 0.5035 | None | gnomAD-4.0.0 | 1.7365E-05 | |
16358 | 8 | F/L | 9 | rs2056894015 | 0.1939 | None | gnomAD-3.1.2 | 6.58E-06 | |
16358 | 8 | F/L | 9 | rs2056894015 | 0.1939 | None | gnomAD-4.0.0 | 6.58155E-06 | |
16358 | 8 | F/S | 9 | rs556089848 | 0.1939 | None | gnomAD-2.1.1 | 1.21E-05 | |
16358 | 8 | F/S | 9 | rs556089848 | 0.1939 | None | gnomAD-3.1.2 | 6.58E-06 | |
16358 | 8 | F/S | 9 | rs556089848 | 0.1939 | None | 1000 genomes | 1.99681E-04 | |
16358 | 8 | F/S | 9 | rs556089848 | 0.1939 | None | gnomAD-4.0.0 | 6.41346E-06 | |
16360 | 10 | I/F | 12 | None | 0.1982 | None | gnomAD-4.0.0 | 6.84612E-07 | |
16360 | 10 | I/L | 12 | None | 0.1982 | None | gnomAD-4.0.0 | 6.84612E-07 | |
16361 | 11 | T/I | 13 | None | 0.3771 | None | gnomAD-4.0.0 | 6.84597E-07 | |
16361 | 11 | T/R | 13 | rs2056892277 | 0.3771 | None | gnomAD-4.0.0 | 6.84597E-07 | |
16362 | 12 | D/A | 14 | rs1380942594 | 0.6233 | None | gnomAD-3.1.2 | 6.58E-06 | |
16362 | 12 | D/A | 14 | rs1380942594 | 0.6233 | None | gnomAD-4.0.0 | 2.03042E-06 | |
16362 | 12 | D/E | 14 | None | 0.6233 | None | gnomAD-4.0.0 | 6.8459E-07 | |
16362 | 12 | D/V | 14 | None | 0.6233 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16363 | 13 | V/A | 15 | rs369266863 | 0.1736 | None | gnomAD-2.1.1 | 1.08E-05 | |
16363 | 13 | V/A | 15 | rs369266863 | 0.1736 | None | gnomAD-3.1.2 | 2.63E-05 | |
16363 | 13 | V/A | 15 | rs369266863 | 0.1736 | None | gnomAD-4.0.0 | 2.63397E-05 | |
16363 | 13 | V/I | 15 | rs776691941 | 0.1736 | None | gnomAD-2.1.1 | 4.05E-06 | |
16363 | 13 | V/I | 15 | rs776691941 | 0.1736 | None | gnomAD-4.0.0 | 1.59333E-06 | |
16364 | 14 | T/I | 16 | rs1159477728 | 0.1843 | None | gnomAD-2.1.1 | 4.04E-06 | |
16364 | 14 | T/I | 16 | rs1159477728 | 0.1843 | None | gnomAD-4.0.0 | 1.59324E-06 | |
16364 | 14 | T/N | 16 | rs1159477728 | 0.1843 | None | gnomAD-4.0.0 | 1.59324E-06 | |
16365 | 15 | N/S | 17 | rs1424335711 | 0.2533 | None | gnomAD-4.0.0 | 6.84568E-06 | |
16366 | 16 | E/A | 18 | None | 0.5622 | None | gnomAD-4.0.0 | 5.47649E-06 | |
16367 | 17 | S/L | 19 | None | 0.1798 | None | gnomAD-4.0.0 | 3.18638E-06 | |
16368 | 18 | C/R | 20 | rs747260539 | 0.0985 | None | gnomAD-2.1.1 | 8.08E-06 | |
16368 | 18 | C/R | 20 | rs747260539 | 0.0985 | None | gnomAD-4.0.0 | 5.47647E-06 | |
16369 | 19 | L/I | 21 | None | 0.2860 | None | gnomAD-4.0.0 | 1.59318E-06 | |
16369 | 19 | L/P | 21 | None | 0.2860 | None | gnomAD-4.0.0 | 1.59316E-06 | |
16370 | 20 | L/P | 22 | None | 0.0782 | None | gnomAD-4.0.0 | 1.59322E-06 | |
16371 | 21 | T/I | 23 | None | 0.2783 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16371 | 21 | T/R | 23 | None | 0.2783 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16374 | 24 | P/S | 26 | None | 0.4802 | None | gnomAD-4.0.0 | 1.59331E-06 | |
16375 | 25 | P/L | 27 | None | 0.1779 | None | gnomAD-4.0.0 | 2.73838E-06 | |
16375 | 25 | P/Q | 27 | rs1256813746 | 0.1779 | None | gnomAD-4.0.0 | 2.05378E-06 | |
16375 | 25 | P/R | 27 | rs1256813746 | 0.1779 | None | gnomAD-2.1.1 | 4.04E-06 | |
16375 | 25 | P/R | 27 | rs1256813746 | 0.1779 | None | gnomAD-4.0.0 | 6.84594E-07 | |
16375 | 25 | P/S | 27 | rs1424436024 | 0.1779 | None | gnomAD-2.1.1 | 4.04E-06 | |
16376 | 26 | R/C | 28 | rs772152172 | 1.0334 | None | gnomAD-2.1.1 | 3.59E-05 | |
16376 | 26 | R/C | 28 | rs772152172 | 1.0334 | None | gnomAD-3.1.2 | 6.59E-06 | |
16376 | 26 | R/C | 28 | rs772152172 | 1.0334 | None | gnomAD-4.0.0 | 1.79842E-05 | |
16376 | 26 | R/H | 28 | rs746306518 | 1.0334 | None | gnomAD-2.1.1 | 4.04E-06 | |
16376 | 26 | R/H | 28 | rs746306518 | 1.0334 | None | gnomAD-4.0.0 | 1.43767E-05 | |
16377 | 27 | D/H | 29 | rs757542062 | 0.6561 | None | gnomAD-2.1.1 | 4.04E-06 | |
16377 | 27 | D/H | 29 | rs757542062 | 0.6561 | None | gnomAD-4.0.0 | 6.84613E-07 | |
16377 | 27 | D/N | 29 | rs757542062 | 0.6561 | None | gnomAD-2.1.1 | 1.79E-05 | |
16377 | 27 | D/N | 29 | rs757542062 | 0.6561 | None | gnomAD-3.1.2 | 3.29E-05 | |
16377 | 27 | D/N | 29 | rs757542062 | 0.6561 | None | gnomAD-4.0.0 | 1.79846E-05 | |
16378 | 28 | D/N | 30 | rs376610251 | 0.2982 | None | gnomAD-3.1.2 | 1.32E-05 | |
16378 | 28 | D/N | 30 | rs376610251 | 0.2982 | None | gnomAD-4.0.0 | 3.72079E-06 | |
16378 | 28 | D/Y | 30 | None | 0.2982 | None | gnomAD-4.0.0 | 6.84615E-07 | |
16379 | 29 | G/D | 31 | rs1355270834 | 0.3308 | None | gnomAD-2.1.1 | 4.04E-06 | |
16379 | 29 | G/D | 31 | rs1355270834 | 0.3308 | None | gnomAD-4.0.0 | 2.05382E-06 | |
16381 | 31 | S/P | 33 | None | 0.2077 | None | gnomAD-4.0.0 | 6.84619E-07 | |
16381 | 31 | S/T | 33 | None | 0.2077 | None | gnomAD-4.0.0 | 6.84619E-07 | |
16382 | 32 | K/R | 34 | None | 0.9607 | None | gnomAD-4.0.0 | 2.73848E-06 | |
16384 | 34 | T/P | 36 | rs1559808274 | 0.3884 | None | gnomAD-2.1.1 | 4.04E-06 | |
16384 | 34 | T/P | 36 | rs1559808274 | 0.3884 | None | gnomAD-4.0.0 | 1.59351E-06 | |
16385 | 35 | N/D | 37 | None | 0.1645 | None | gnomAD-4.0.0 | 1.59351E-06 | |
16385 | 35 | N/I | 37 | rs778033610 | 0.1645 | None | gnomAD-2.1.1 | 4.04E-06 | |
16385 | 35 | N/I | 37 | rs778033610 | 0.1645 | None | gnomAD-4.0.0 | 1.59352E-06 | |
16386 | 36 | Y/C | 38 | rs190721620 | 0.1185 | None | gnomAD-2.1.1 | 8.08E-06 | |
16386 | 36 | Y/C | 38 | rs190721620 | 0.1185 | None | gnomAD-3.1.2 | 1.32E-05 | |
16386 | 36 | Y/C | 38 | rs190721620 | 0.1185 | None | 1000 genomes | 1.99681E-04 | |
16386 | 36 | Y/C | 38 | rs190721620 | 0.1185 | None | gnomAD-4.0.0 | 6.82135E-06 | |
16386 | 36 | Y/H | 38 | rs754631165 | 0.1185 | None | gnomAD-2.1.1 | 4.04E-06 | |
16386 | 36 | Y/H | 38 | rs754631165 | 0.1185 | None | gnomAD-4.0.0 | 1.59358E-06 | |
16387 | 37 | V/A | 39 | rs765925142 | 0.1934 | None | gnomAD-2.1.1 | 4.04E-06 | |
16387 | 37 | V/A | 39 | rs765925142 | 0.1934 | None | gnomAD-4.0.0 | 1.59357E-06 | |
16388 | 38 | V/M | 40 | rs1299253449 | 0.0838 | None | gnomAD-2.1.1 | 4.04E-06 | |
16388 | 38 | V/M | 40 | rs1299253449 | 0.0838 | None | gnomAD-3.1.2 | 6.59E-06 | |
16388 | 38 | V/M | 40 | rs1299253449 | 0.0838 | None | gnomAD-4.0.0 | 2.56641E-06 | |
16389 | 39 | E/D | 41 | rs1386540651 | 0.1435 | None | gnomAD-2.1.1 | 4.04E-06 | |
16389 | 39 | E/D | 41 | rs1386540651 | 0.1435 | None | gnomAD-4.0.0 | 1.36931E-06 | |
16389 | 39 | E/K | 41 | rs2154201588 | 0.1435 | None | gnomAD-4.0.0 | 4.10788E-06 | |
16391 | 41 | R/Q | 43 | rs200944827 | 0.1879 | None | gnomAD-2.1.1 | 1.29208E-04 | |
16391 | 41 | R/Q | 43 | rs200944827 | 0.1879 | None | gnomAD-3.1.2 | 1.31737E-04 | |
16391 | 41 | R/Q | 43 | rs200944827 | 0.1879 | None | gnomAD-4.0.0 | 1.60631E-04 | |
16392 | 42 | A/E | 44 | rs750310775 | 0.1208 | None | gnomAD-2.1.1 | 4.04E-06 | |
16392 | 42 | A/E | 44 | rs750310775 | 0.1208 | None | gnomAD-4.0.0 | 1.30084E-05 | |
16392 | 42 | A/T | 44 | rs794729446 | 0.1208 | None | gnomAD-4.0.0 | 1.59368E-06 | |
16394 | 44 | D/N | 54 | rs765265590 | 0.6942 | None | gnomAD-2.1.1 | 8.08E-06 | |
16394 | 44 | D/N | 54 | rs765265590 | 0.6942 | None | gnomAD-4.0.0 | 3.18734E-06 | |
16396 | 46 | E/K | 63 | None | 0.9464 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16397 | 47 | V/G | 64 | rs761480322 | 0.5599 | None | gnomAD-2.1.1 | 4.04E-06 | |
16397 | 47 | V/G | 64 | rs761480322 | 0.5599 | None | gnomAD-3.1.2 | 6.59E-06 | |
16397 | 47 | V/G | 64 | rs761480322 | 0.5599 | None | gnomAD-4.0.0 | 5.13209E-06 | |
16397 | 47 | V/L | 64 | None | 0.5599 | None | gnomAD-4.0.0 | 3.18733E-06 | |
16397 | 47 | V/M | 64 | rs397517595 | 0.5599 | None | gnomAD-3.1.2 | 6.59E-06 | |
16397 | 47 | V/M | 64 | rs397517595 | 0.5599 | None | gnomAD-4.0.0 | 6.58553E-06 | |
16399 | 49 | H/Q | 66 | rs550330154 | 0.5690 | None | gnomAD-3.1.2 | 1.32E-05 | |
16399 | 49 | H/Q | 66 | rs550330154 | 0.5690 | None | 1000 genomes | 1.99681E-04 | |
16399 | 49 | H/Q | 66 | rs550330154 | 0.5690 | None | gnomAD-4.0.0 | 3.10083E-06 | |
16399 | 49 | H/Y | 66 | rs1194172632 | 0.5690 | None | gnomAD-2.1.1 | 4.04E-06 | |
16399 | 49 | H/Y | 66 | rs1194172632 | 0.5690 | None | gnomAD-3.1.2 | 6.59E-06 | |
16399 | 49 | H/Y | 66 | rs1194172632 | 0.5690 | None | gnomAD-4.0.0 | 6.41662E-06 | |
16401 | 51 | L/R | 68 | None | 0.2631 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16401 | 51 | L/V | 68 | rs794729447 | 0.2631 | None | gnomAD-3.1.2 | 6.59E-06 | |
16401 | 51 | L/V | 68 | rs794729447 | 0.2631 | None | gnomAD-4.0.0 | 6.59031E-06 | |
16402 | 52 | S/L | 69 | rs772357820 | 0.1790 | None | gnomAD-2.1.1 | 1.62E-05 | |
16402 | 52 | S/L | 69 | rs772357820 | 0.1790 | None | gnomAD-3.1.2 | 6.59E-06 | |
16402 | 52 | S/L | 69 | rs772357820 | 0.1790 | None | gnomAD-4.0.0 | 2.23273E-05 | |
16402 | 52 | S/P | 69 | rs1413819642 | 0.1790 | None | gnomAD-3.1.2 | 6.59E-06 | |
16402 | 52 | S/P | 69 | rs1413819642 | 0.1790 | None | gnomAD-4.0.0 | 6.58631E-06 | |
16403 | 53 | S/P | 70 | rs746009199 | 0.4697 | None | gnomAD-2.1.1 | 4.04E-06 | |
16403 | 53 | S/P | 70 | rs746009199 | 0.4697 | None | gnomAD-3.1.2 | 2.64E-05 | |
16403 | 53 | S/P | 70 | rs746009199 | 0.4697 | None | gnomAD-4.0.0 | 6.4169E-06 | |
16403 | 53 | S/T | 70 | rs746009199 | 0.4697 | None | gnomAD-2.1.1 | 4.04E-06 | |
16403 | 53 | S/Y | 70 | rs774691242 | 0.4697 | None | gnomAD-2.1.1 | 1.08E-05 | |
16403 | 53 | S/Y | 70 | rs774691242 | 0.4697 | None | gnomAD-3.1.2 | 6.59E-06 | |
16403 | 53 | S/Y | 70 | rs774691242 | 0.4697 | None | gnomAD-4.0.0 | 6.41682E-06 | |
16405 | 55 | V/I | 77 | rs570644860 | 0.1158 | None | gnomAD-2.1.1 | 3.23E-05 | |
16405 | 55 | V/I | 77 | rs570644860 | 0.1158 | None | gnomAD-3.1.2 | 1.98E-05 | |
16405 | 55 | V/I | 77 | rs570644860 | 0.1158 | None | 1000 genomes | 1.99681E-04 | |
16405 | 55 | V/I | 77 | rs570644860 | 0.1158 | None | gnomAD-4.0.0 | 2.85289E-05 | |
16406 | 56 | K/R | 83 | None | 0.7855 | None | gnomAD-4.0.0 | 1.59385E-06 | |
16407 | 57 | D/Y | 88 | None | 0.6952 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16409 | 59 | N/D | 90 | rs1315841408 | 0.4390 | None | gnomAD-2.1.1 | 3.19E-05 | |
16409 | 59 | N/D | 90 | rs1315841408 | 0.4390 | None | gnomAD-3.1.2 | 6.59E-06 | |
16409 | 59 | N/D | 90 | rs1315841408 | 0.4390 | None | gnomAD-4.0.0 | 2.5665E-06 | |
16409 | 59 | N/I | 90 | rs2056864818 | 0.4390 | None | gnomAD-4.0.0 | 1.59385E-06 | |
16409 | 59 | N/K | 90 | rs2056864466 | 0.4390 | None | gnomAD-4.0.0 | 1.59385E-06 | |
16411 | 61 | K/R | 92 | None | 0.5626 | None | gnomAD-4.0.0 | 1.59395E-06 | |
16412 | 62 | A/G | 93 | rs746659077 | 0.1029 | None | gnomAD-2.1.1 | 2.83E-05 | |
16412 | 62 | A/G | 93 | rs746659077 | 0.1029 | None | gnomAD-3.1.2 | 3.29E-05 | |
16412 | 62 | A/G | 93 | rs746659077 | 0.1029 | None | gnomAD-4.0.0 | 1.11642E-05 | |
16412 | 62 | A/V | 93 | rs746659077 | 0.1029 | None | gnomAD-2.1.1 | 4.04E-06 | |
16412 | 62 | A/V | 93 | rs746659077 | 0.1029 | None | gnomAD-4.0.0 | 1.02705E-05 | |
16413 | 63 | T/I | 94 | None | 0.4524 | None | gnomAD-4.0.0 | 1.59389E-06 | |
16413 | 63 | T/N | 94 | None | 0.4524 | None | gnomAD-4.0.0 | 1.59389E-06 | |
16414 | 64 | K/R | 96 | rs1329659749 | 0.8698 | None | gnomAD-2.1.1 | 4.04E-06 | |
16414 | 64 | K/R | 96 | rs1329659749 | 0.8698 | None | gnomAD-4.0.0 | 2.73877E-06 | |
16415 | 65 | L/F | 97 | rs779906601 | 0.1110 | None | gnomAD-2.1.1 | 4.04E-06 | |
16415 | 65 | L/F | 97 | rs779906601 | 0.1110 | None | gnomAD-4.0.0 | 1.59387E-06 | |
16417 | 67 | P/R | 99 | rs1387631926 | 0.3735 | None | gnomAD-2.1.1 | 4.04E-06 | |
16417 | 67 | P/R | 99 | rs1387631926 | 0.3735 | None | gnomAD-4.0.0 | 1.59407E-06 | |
16417 | 67 | P/S | 99 | None | 0.3735 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16418 | 68 | N/K | 100 | rs749986997 | 0.7994 | None | gnomAD-2.1.1 | 4.04E-06 | |
16418 | 68 | N/K | 100 | rs749986997 | 0.7994 | None | gnomAD-4.0.0 | 1.59401E-06 | |
16418 | 68 | N/S | 100 | rs757956453 | 0.7994 | None | gnomAD-2.1.1 | 4.04E-06 | |
16418 | 68 | N/S | 100 | rs757956453 | 0.7994 | None | gnomAD-4.0.0 | 1.36944E-06 | |
16420 | 70 | E/D | 103 | rs2056859473 | 0.4207 | None | gnomAD-3.1.2 | 6.59E-06 | |
16420 | 70 | E/D | 103 | rs2056859473 | 0.4207 | None | gnomAD-4.0.0 | 6.58857E-06 | |
16420 | 70 | E/G | 103 | rs1402412207 | 0.4207 | None | gnomAD-2.1.1 | 4.04E-06 | |
16420 | 70 | E/G | 103 | rs1402412207 | 0.4207 | None | gnomAD-4.0.0 | 1.59393E-06 | |
16420 | 70 | E/K | 103 | rs764682084 | 0.4207 | None | gnomAD-2.1.1 | 2.02E-05 | |
16420 | 70 | E/K | 103 | rs764682084 | 0.4207 | None | gnomAD-3.1.2 | 1.32E-05 | |
16420 | 70 | E/K | 103 | rs764682084 | 0.4207 | None | gnomAD-4.0.0 | 6.20235E-06 | |
16422 | 72 | I/N | 105 | None | 0.1395 | None | gnomAD-4.0.0 | 6.84697E-07 | |
16422 | 72 | I/T | 105 | rs746167353 | 0.1395 | None | gnomAD-2.1.1 | 4.04E-06 | |
16422 | 72 | I/T | 105 | rs746167353 | 0.1395 | None | gnomAD-4.0.0 | 1.78021E-05 | |
16424 | 74 | R/K | 107 | None | 0.1569 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16425 | 75 | V/A | 108 | None | 0.0669 | None | gnomAD-4.0.0 | 2.05409E-06 | |
16427 | 77 | A/G | 110 | rs794727351 | 0.1071 | None | gnomAD-4.0.0 | 1.91721E-05 | |
16427 | 77 | A/V | 110 | None | 0.1071 | None | gnomAD-4.0.0 | 3.42359E-06 | |
16429 | 79 | N/D | 112 | None | 0.1057 | None | gnomAD-4.0.0 | 1.59392E-06 | |
16429 | 79 | N/K | 112 | rs763809932 | 0.1057 |
AVB |
Literature | None | |
16430 | 80 | M/I | 113 | None | 0.4326 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16430 | 80 | M/L | 113 | None | 0.4326 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16430 | 80 | M/T | 113 | rs973490041 | 0.4326 | None | gnomAD-3.1.2 | 1.32E-05 | |
16430 | 80 | M/T | 113 | rs973490041 | 0.4326 | None | gnomAD-4.0.0 | 4.06086E-06 | |
16431 | 81 | Y/C | 114 | None | 0.6787 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16431 | 81 | Y/H | 114 | None | 0.6787 | None | gnomAD-4.0.0 | 1.36942E-06 | |
16432 | 82 | G/D | 115 | rs547225882 | 0.2225 | None | gnomAD-3.1.2 | 6.58E-06 | |
16432 | 82 | G/D | 115 | rs547225882 | 0.2225 | None | 1000 genomes | 1.99681E-04 | |
16432 | 82 | G/D | 115 | rs547225882 | 0.2225 | None | gnomAD-4.0.0 | 2.5662E-06 | |
16432 | 82 | G/R | 115 | rs760530855 | 0.2225 | None | gnomAD-2.1.1 | 8.08E-06 | |
16432 | 82 | G/R | 115 | rs760530855 | 0.2225 | None | gnomAD-4.0.0 | 3.18792E-06 | |
16432 | 82 | G/S | 115 | rs760530855 | 0.2225 | None | gnomAD-2.1.1 | 4.04E-06 | |
16432 | 82 | G/S | 115 | rs760530855 | 0.2225 | None | gnomAD-4.0.0 | 9.56376E-06 | |
16432 | 82 | G/V | 115 | None | 0.2225 | None | gnomAD-4.0.0 | 1.59393E-06 | |
16433 | 83 | V/A | 117 | None | 0.4206 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16434 | 84 | G/A | 118 | None | 0.1663 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16434 | 84 | G/C | 118 | rs775667867 | 0.1663 | None | gnomAD-2.1.1 | 4.04E-06 | |
16434 | 84 | G/R | 118 | rs775667867 | 0.1663 | None | gnomAD-3.1.2 | 1.32E-05 | |
16434 | 84 | G/R | 118 | rs775667867 | 0.1663 | None | gnomAD-4.0.0 | 1.31752E-05 | |
16435 | 85 | E/D | 119 | rs1407270484 | 0.7432 | None | gnomAD-3.1.2 | 6.58E-06 | |
16435 | 85 | E/D | 119 | rs1407270484 | 0.7432 | None | gnomAD-4.0.0 | 2.03037E-06 | |
16435 | 85 | E/K | 119 | rs886044255 | 0.7432 | None | gnomAD-4.0.0 | 3.42356E-06 | |
16436 | 86 | P/A | 120 | rs527592906 | 0.4081 | None | gnomAD-3.1.2 | 6.59E-06 | |
16436 | 86 | P/A | 120 | rs527592906 | 0.4081 | None | 1000 genomes | 1.99681E-04 | |
16436 | 86 | P/A | 120 | rs527592906 | 0.4081 | None | gnomAD-4.0.0 | 6.58311E-06 | |
16436 | 86 | P/L | 120 | None | 0.4081 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16436 | 86 | P/Q | 120 | rs1438404271 | 0.4081 | None | gnomAD-3.1.2 | 6.59E-06 | |
16436 | 86 | P/Q | 120 | rs1438404271 | 0.4081 | None | gnomAD-4.0.0 | 6.58744E-06 | |
16436 | 86 | P/S | 120 | None | 0.4081 | None | gnomAD-4.0.0 | 1.59392E-06 | |
16437 | 87 | V/D | 121 | rs767768313 | 0.1731 | None | gnomAD-2.1.1 | 2.15E-05 | |
16437 | 87 | V/D | 121 | rs767768313 | 0.1731 | None | gnomAD-3.1.2 | 2.63E-05 | |
16437 | 87 | V/D | 121 | rs767768313 | 0.1731 | None | gnomAD-4.0.0 | 3.03893E-05 | |
16438 | 88 | Q/L | 122 | None | 0.4249 | None | gnomAD-4.0.0 | 1.59403E-06 | |
16439 | 89 | A/S | 123 | rs759710792 | 0.1873 | None | gnomAD-2.1.1 | 4.04E-06 | |
16439 | 89 | A/S | 123 | rs759710792 | 0.1873 | None | gnomAD-3.1.2 | 6.59E-06 | |
16439 | 89 | A/S | 123 | rs759710792 | 0.1873 | None | gnomAD-4.0.0 | 1.2405E-06 | |
16439 | 89 | A/T | 123 | rs759710792 | 0.1873 | None | gnomAD-2.1.1 | 8.08E-06 | |
16439 | 89 | A/T | 123 | rs759710792 | 0.1873 | None | gnomAD-4.0.0 | 1.36945E-06 | |
16441 | 91 | P/L | 126 | rs570251027 | 0.4859 | None | gnomAD-4.0.0 | 1.59433E-06 | |
16442 | 92 | I/M | 127 | None | 0.1818 | None | gnomAD-4.0.0 | 6.84796E-07 | |
16442 | 92 | I/V | 127 | rs2056850681 | 0.1818 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16443 | 93 | T/A | 128 | rs1200322239 | 0.3107 | None | gnomAD-2.1.1 | 8.09E-06 | |
16443 | 93 | T/A | 128 | rs1200322239 | 0.3107 | None | gnomAD-4.0.0 | 4.79359E-06 | |
16443 | 93 | T/I | 128 | None | 0.3107 | None | gnomAD-4.0.0 | 1.59478E-06 | |
16443 | 93 | T/R | 128 | rs1343316485 | 0.3107 | None | gnomAD-2.1.1 | 4.05E-06 | |
16443 | 93 | T/R | 128 | rs1343316485 | 0.3107 | None | gnomAD-4.0.0 | 4.78434E-06 | |
16444 | 94 | A/T | 130 | rs1376559145 | 0.0734 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16445 | 95 | K/E | 131 | rs1553701901 | 0.4880 | None | gnomAD-3.1.2 | 6.58E-06 | |
16445 | 95 | K/E | 131 | rs1553701901 | 0.4880 | None | gnomAD-4.0.0 | 2.56791E-06 | |
16446 | 96 | Y/C | 132 | rs2056847941 | 0.2674 | None | gnomAD-3.1.2 | 6.58E-06 | |
16446 | 96 | Y/C | 132 | rs2056847941 | 0.2674 | None | gnomAD-4.0.0 | 2.03051E-06 | |
16446 | 96 | Y/H | 132 | rs774443816 | 0.2674 | None | gnomAD-2.1.1 | 4.05E-06 | |
16446 | 96 | Y/H | 132 | rs774443816 | 0.2674 | None | gnomAD-4.0.0 | 1.36998E-06 |