10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
P | Y | F | I | E | P | L | E | H | V | E | A | V | I | G | E | P | A | T | L | Q | C | K | V | D | G | T | P | E | I | R | I | S | W | Y | K | E | H | T | K | L | R | S | A | P | A | Y | K | M | Q | F | K | N | N | V | A | S | L | V | I | N | K | V | D | H | S | D | V | G | E | Y | S | C | K | A | D | N | S | V | G | A | V | A | S | S | A | V | L | V | I |
P | Y | F | I | E | P | L | E | H | V | E | A | V | I | G | E | P | A | T | L | Q | C | K | V | D | G | T | P | E | I | R | I | S | W | Y | K | E | H | T | K | L | R | S | A | P | A | Y | K | M | Q | F | K | N | N | V | A | S | L | V | I | N | K | V | D | H | S | D | V | G | E | Y | S | C | K | A | D | N | S | V | G | A | V | A | S | S | A | V | L | V | I |
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 |
---|---|---|---|---|---|---|---|---|---|
8264 ![]() |
1 | P/A | 1 ![]() |
None | 0.1540 | None | gnomAD-4.0.0 | 1.63066E-06 | |
8264 ![]() |
1 | P/L | 1 ![]() |
rs1235369035 ![]() |
0.1540 | None | gnomAD-2.1.1 | 8.38E-06 | |
8264 ![]() |
1 | P/L | 1 ![]() |
rs1235369035 ![]() |
0.1540 | None | gnomAD-4.0.0 | 4.14748E-06 | |
8265 ![]() |
2 | Y/N | 2 ![]() |
None | 0.4846 | None | gnomAD-4.0.0 | 1.6283E-06 | |
8266 ![]() |
3 | F/Y | 3 ![]() |
rs768252647 ![]() |
0.1707 | None | gnomAD-2.1.1 | 8.33E-06 | |
8266 ![]() |
3 | F/Y | 3 ![]() |
rs768252647 ![]() |
0.1707 | None | gnomAD-4.0.0 | 1.78772E-05 | |
8267 ![]() |
4 | I/F | 4 ![]() |
rs534974639 ![]() |
0.6069 | None | gnomAD-2.1.1 | 8.33E-06 | |
8267 ![]() |
4 | I/F | 4 ![]() |
rs534974639 ![]() |
0.6069 | None | gnomAD-3.1.2 | 1.97E-05 | |
8267 ![]() |
4 | I/F | 4 ![]() |
rs534974639 ![]() |
0.6069 | None | 1000 genomes | 3.99361E-04 | |
8267 ![]() |
4 | I/F | 4 ![]() |
rs534974639 ![]() |
0.6069 | None | gnomAD-4.0.0 | 6.87145E-06 | |
8267 ![]() |
4 | I/T | 4 ![]() |
None | 0.6069 | None | gnomAD-4.0.0 | 1.62361E-06 | |
8269 ![]() |
6 | P/L | 7 ![]() |
rs960099770 ![]() |
0.4535 | None | gnomAD-4.0.0 | 1.62141E-06 | |
8271 ![]() |
8 | E/K | 9 ![]() |
None | 0.7731 | None | gnomAD-4.0.0 | 4.13603E-06 | |
8271 ![]() |
8 | E/Q | 9 ![]() |
None | 0.7731 | None | gnomAD-4.0.0 | 6.89338E-07 | |
8272 ![]() |
9 | H/L | 11 ![]() |
None | 0.6108 | None | gnomAD-4.0.0 | 6.88821E-07 | |
8272 ![]() |
9 | H/P | 11 ![]() |
rs1299797032 ![]() |
0.6108 | None | gnomAD-2.1.1 | 4.13E-06 | |
8272 ![]() |
9 | H/P | 11 ![]() |
rs1299797032 ![]() |
0.6108 | None | gnomAD-4.0.0 | 1.37764E-06 | |
8272 ![]() |
9 | H/Q | 11 ![]() |
None | 0.6108 | None | gnomAD-4.0.0 | 1.61603E-06 | |
8272 ![]() |
9 | H/Y | 11 ![]() |
None | 0.6108 | None | gnomAD-4.0.0 | 2.068E-06 | |
8273 ![]() |
10 | V/A | 13 ![]() |
None | 0.2964 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8273 ![]() |
10 | V/M | 13 ![]() |
None | 0.2964 | None | gnomAD-4.0.0 | 1.61611E-06 | |
8274 ![]() |
11 | E/K | 14 ![]() |
rs72648981 ![]() |
0.8341 | None | gnomAD-2.1.1 | 2.30508E-03 | |
8274 ![]() |
11 | E/K | 14 ![]() |
rs72648981 ![]() |
0.8341 | None | gnomAD-3.1.2 | 2.32668E-03 | |
8274 ![]() |
11 | E/K | 14 ![]() |
rs72648981 ![]() |
0.8341 | None | 1000 genomes | 5.99042E-04 | |
8274 ![]() |
11 | E/K | 14 ![]() |
rs72648981 ![]() |
0.8341 | None | gnomAD-4.0.0 | 2.97975E-03 | |
8275 ![]() |
12 | A/T | 16 ![]() |
rs771947778 ![]() |
0.2881 | None | gnomAD-2.1.1 | 4.13E-06 | |
8275 ![]() |
12 | A/T | 16 ![]() |
rs771947778 ![]() |
0.2881 | None | gnomAD-4.0.0 | 1.10167E-05 | |
8277 ![]() |
14 | I/T | 23 ![]() |
rs745818162 ![]() |
0.7584 | None | gnomAD-2.1.1 | 1.1E-05 | |
8277 ![]() |
14 | I/T | 23 ![]() |
rs745818162 ![]() |
0.7584 | None | gnomAD-3.1.2 | 6.57E-06 | |
8277 ![]() |
14 | I/T | 23 ![]() |
rs745818162 ![]() |
0.7584 | None | gnomAD-4.0.0 | 7.7693E-06 | |
8278 ![]() |
15 | G/A | 24 ![]() |
rs778611558 ![]() |
0.2506 | None | gnomAD-2.1.1 | 4.75E-05 | |
8278 ![]() |
15 | G/A | 24 ![]() |
rs778611558 ![]() |
0.2506 | None | gnomAD-3.1.2 | 3.29E-05 | |
8278 ![]() |
15 | G/A | 24 ![]() |
rs778611558 ![]() |
0.2506 | None | gnomAD-4.0.0 | 3.36686E-05 | |
8278 ![]() |
15 | G/R | 24 ![]() |
rs1406754899 ![]() |
0.2506 | None | gnomAD-2.1.1 | 4.12E-06 | |
8278 ![]() |
15 | G/R | 24 ![]() |
rs1406754899 ![]() |
0.2506 | None | gnomAD-4.0.0 | 1.6128E-06 | |
8280 ![]() |
17 | P/L | 26 ![]() |
rs375219172 ![]() |
0.4169 | None | gnomAD-2.1.1 | 8.23E-06 | |
8280 ![]() |
17 | P/L | 26 ![]() |
rs375219172 ![]() |
0.4169 | None | gnomAD-3.1.2 | 6.57E-06 | |
8280 ![]() |
17 | P/L | 26 ![]() |
rs375219172 ![]() |
0.4169 | None | gnomAD-4.0.0 | 8.09428E-06 | |
8280 ![]() |
17 | P/R | 26 ![]() |
rs375219172 ![]() |
0.4169 | None | gnomAD-3.1.2 | 1.31E-05 | |
8280 ![]() |
17 | P/R | 26 ![]() |
rs375219172 ![]() |
0.4169 | None | gnomAD-4.0.0 | 1.86791E-06 | |
8281 ![]() |
18 | A/E | 28 ![]() |
rs1474165122 ![]() |
0.2053 | None | gnomAD-2.1.1 | 8.22E-06 | |
8281 ![]() |
18 | A/E | 28 ![]() |
rs1474165122 ![]() |
0.2053 | None | gnomAD-4.0.0 | 4.83065E-06 | |
8281 ![]() |
18 | A/T | 28 ![]() |
rs2077783832 ![]() |
0.2053 | None | gnomAD-4.0.0 | 1.61075E-06 | |
8282 ![]() |
19 | T/A | 29 ![]() |
rs2077783131 ![]() |
0.6361 | None | gnomAD-4.0.0 | 4.80129E-06 | |
8282 ![]() |
19 | T/I | 29 ![]() |
None | 0.6361 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8283 ![]() |
20 | L/F | 30 ![]() |
rs1454021604 ![]() |
0.1370 | None | gnomAD-3.1.2 | 6.57E-06 | |
8283 ![]() |
20 | L/F | 30 ![]() |
rs1454021604 ![]() |
0.1370 | None | gnomAD-4.0.0 | 3.73346E-06 | |
8283 ![]() |
20 | L/V | 30 ![]() |
rs1408912599 ![]() |
0.1370 | None | gnomAD-3.1.2 | 6.57E-06 | |
8283 ![]() |
20 | L/V | 30 ![]() |
rs1408912599 ![]() |
0.1370 | None | gnomAD-4.0.0 | 6.57151E-06 | |
8284 ![]() |
21 | Q/E | 31 ![]() |
None | 0.4974 | None | gnomAD-4.0.0 | 2.40066E-06 | |
8284 ![]() |
21 | Q/L | 31 ![]() |
None | 0.4974 | None | gnomAD-4.0.0 | 3.21576E-06 | |
8285 ![]() |
22 | C/G | 33 ![]() |
rs757040162 ![]() |
0.0981 | None | gnomAD-2.1.1 | 4.1E-06 | |
8285 ![]() |
22 | C/R | 33 ![]() |
None | 0.0981 | None | gnomAD-4.0.0 | 6.87163E-07 | |
8285 ![]() |
22 | C/S | 33 ![]() |
rs757040162 ![]() |
0.0981 | None | gnomAD-2.1.1 | 4.1E-06 | |
8285 ![]() |
22 | C/S | 33 ![]() |
rs757040162 ![]() |
0.0981 | None | gnomAD-4.0.0 | 1.37433E-06 | |
8286 ![]() |
23 | K/E | 34 ![]() |
rs1454054276 ![]() |
0.3835 | None | gnomAD-2.1.1 | 4.1E-06 | |
8286 ![]() |
23 | K/E | 34 ![]() |
rs1454054276 ![]() |
0.3835 | None | gnomAD-4.0.0 | 3.50342E-05 | |
8286 ![]() |
23 | K/Q | 34 ![]() |
rs1454054276 ![]() |
0.3835 | None | gnomAD-4.0.0 | 1.37389E-06 | |
8286 ![]() |
23 | K/R | 34 ![]() |
None | 0.3835 | None | gnomAD-4.0.0 | 6.86896E-07 | |
8287 ![]() |
24 | V/A | 35 ![]() |
rs2077779717 ![]() |
0.1183 | None | gnomAD-4.0.0 | 1.60527E-06 | |
8288 ![]() |
25 | D/G | 38 ![]() |
None | 0.3627 | None | gnomAD-4.0.0 | 1.20033E-06 | |
8288 ![]() |
25 | D/N | 38 ![]() |
rs372538009 ![]() |
0.3627 | None | gnomAD-3.1.2 | 6.57E-06 | |
8288 ![]() |
25 | D/N | 38 ![]() |
rs372538009 ![]() |
0.3627 | None | gnomAD-4.0.0 | 2.57995E-06 | |
8290 ![]() |
27 | T/N | 41 ![]() |
None | 0.5419 | None | gnomAD-4.0.0 | 1.6026E-06 | |
8291 ![]() |
28 | P/T | 42 ![]() |
None | 0.6017 | None | gnomAD-4.0.0 | 1.60168E-06 | |
8292 ![]() |
29 | E/Q | 43 ![]() |
rs778030351 ![]() |
0.8549 | None | gnomAD-2.1.1 | 8.13E-06 | |
8292 ![]() |
29 | E/Q | 43 ![]() |
rs778030351 ![]() |
0.8549 | None | gnomAD-4.0.0 | 4.80143E-06 | |
8294 ![]() |
31 | R/G | 45 ![]() |
rs72648982 ![]() |
0.8344 | None | gnomAD-2.1.1 | 2.17258E-02 | |
8294 ![]() |
31 | R/G | 45 ![]() |
rs72648982 ![]() |
0.8344 | None | gnomAD-3.1.2 | 2.06025E-02 | |
8294 ![]() |
31 | R/G | 45 ![]() |
rs72648982 ![]() |
0.8344 | None | 1000 genomes | 1.21805E-02 | |
8294 ![]() |
31 | R/G | 45 ![]() |
rs72648982 ![]() |
0.8344 | None | gnomAD-4.0.0 | 2.73513E-02 | |
8295 ![]() |
32 | I/N | 46 ![]() |
rs752786293 ![]() |
0.1745 | None | gnomAD-2.1.1 | 8.09E-06 | |
8295 ![]() |
32 | I/N | 46 ![]() |
rs752786293 ![]() |
0.1745 | None | gnomAD-4.0.0 | 6.38857E-06 | |
8296 ![]() |
33 | S/P | 47 ![]() |
None | 0.1799 | None | gnomAD-4.0.0 | 6.85202E-07 | |
8296 ![]() |
33 | S/T | 47 ![]() |
rs767731986 ![]() |
0.1799 | None | gnomAD-2.1.1 | 1.21E-05 | |
8296 ![]() |
33 | S/T | 47 ![]() |
rs767731986 ![]() |
0.1799 | None | gnomAD-3.1.2 | 6.57E-06 | |
8296 ![]() |
33 | S/T | 47 ![]() |
rs767731986 ![]() |
0.1799 | None | gnomAD-4.0.0 | 2.48203E-06 | |
8297 ![]() |
34 | W/C | 48 ![]() |
rs727504205 ![]() |
0.1195 | None | gnomAD-4.0.0 | 2.05508E-06 | |
8299 ![]() |
36 | K/E | 50 ![]() |
rs2077774413 ![]() |
0.1768 | None | gnomAD-3.1.2 | 6.57E-06 | |
8299 ![]() |
36 | K/E | 50 ![]() |
rs2077774413 ![]() |
0.1768 | None | gnomAD-4.0.0 | 6.57255E-06 | |
8299 ![]() |
36 | K/R | 50 ![]() |
None | 0.1768 | None | gnomAD-4.0.0 | 1.36967E-06 | |
8300 ![]() |
37 | E/D | 51 ![]() |
rs1438429191 ![]() |
0.6243 | None | gnomAD-2.1.1 | 4.03E-06 | |
8300 ![]() |
37 | E/D | 51 ![]() |
rs1438429191 ![]() |
0.6243 | None | gnomAD-4.0.0 | 6.8472E-07 | |
8300 ![]() |
37 | E/K | 51 ![]() |
rs1300968279 ![]() |
0.6243 | None | gnomAD-3.1.2 | 6.58E-06 | |
8300 ![]() |
37 | E/K | 51 ![]() |
rs1300968279 ![]() |
0.6243 | None | gnomAD-4.0.0 | 6.57583E-06 | |
8300 ![]() |
37 | E/Q | 51 ![]() |
rs1300968279 ![]() |
0.6243 | None | gnomAD-2.1.1 | 4.03E-06 | |
8300 ![]() |
37 | E/Q | 51 ![]() |
rs1300968279 ![]() |
0.6243 | None | gnomAD-3.1.2 | 6.58E-06 | |
8300 ![]() |
37 | E/Q | 51 ![]() |
rs1300968279 ![]() |
0.6243 | None | gnomAD-4.0.0 | 5.13343E-06 | |
8301 ![]() |
38 | H/L | 52 ![]() |
rs763397399 ![]() |
0.8512 | None | gnomAD-2.1.1 | 4.03E-06 | |
8301 ![]() |
38 | H/L | 52 ![]() |
rs763397399 ![]() |
0.8512 | None | gnomAD-4.0.0 | 1.59372E-06 | |
8301 ![]() |
38 | H/N | 52 ![]() |
rs375389220 ![]() |
0.8512 | None | gnomAD-3.1.2 | 6.57E-06 | |
8301 ![]() |
38 | H/N | 52 ![]() |
rs375389220 ![]() |
0.8512 | None | 1000 genomes | 1.99681E-04 | |
8301 ![]() |
38 | H/N | 52 ![]() |
rs375389220 ![]() |
0.8512 | None | gnomAD-4.0.0 | 6.56901E-06 | |
8301 ![]() |
38 | H/Y | 52 ![]() |
rs375389220 ![]() |
0.8512 | None | gnomAD-2.1.1 | 4.03E-06 | |
8301 ![]() |
38 | H/Y | 52 ![]() |
rs375389220 ![]() |
0.8512 | None | gnomAD-4.0.0 | 2.05425E-06 | |
8302 ![]() |
39 | T/A | 55 ![]() |
None | 0.4148 | None | gnomAD-4.0.0 | 6.84604E-07 | |
8302 ![]() |
39 | T/K | 55 ![]() |
rs549604128 ![]() |
0.4148 | None | gnomAD-2.1.1 | 8.94E-05 | |
8302 ![]() |
39 | T/K | 55 ![]() |
rs549604128 ![]() |
0.4148 | None | gnomAD-3.1.2 | 5.26E-05 | |
8302 ![]() |
39 | T/K | 55 ![]() |
rs549604128 ![]() |
0.4148 | None | 1000 genomes | 3.99361E-04 | |
8302 ![]() |
39 | T/K | 55 ![]() |
rs549604128 ![]() |
0.4148 | None | gnomAD-4.0.0 | 2.23197E-05 | |
8302 ![]() |
39 | T/S | 55 ![]() |
None | 0.4148 | None | gnomAD-4.0.0 | 6.84604E-07 | |
8305 ![]() |
42 | R/Q | 59 ![]() |
rs759985618 ![]() |
0.5338 | None | gnomAD-2.1.1 | 5.23E-05 | |
8305 ![]() |
42 | R/Q | 59 ![]() |
rs759985618 ![]() |
0.5338 | None | gnomAD-3.1.2 | 6.58E-06 | |
8305 ![]() |
42 | R/Q | 59 ![]() |
rs759985618 ![]() |
0.5338 | None | gnomAD-4.0.0 | 3.34745E-05 | |
8306 ![]() |
43 | S/L | 70 ![]() |
rs776712129 ![]() |
0.5712 | None | gnomAD-2.1.1 | 4.02E-06 | |
8306 ![]() |
43 | S/L | 70 ![]() |
rs776712129 ![]() |
0.5712 | None | gnomAD-3.1.2 | 6.57E-06 | |
8306 ![]() |
43 | S/L | 70 ![]() |
rs776712129 ![]() |
0.5712 | None | gnomAD-4.0.0 | 1.36365E-05 | |
8307 ![]() |
44 | A/G | 73 ![]() |
rs2077769834 ![]() |
0.3233 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8308 ![]() |
45 | P/S | 102 ![]() |
rs373770383 ![]() |
0.8927 | None | gnomAD-2.1.1 | 4.64E-05 | |
8308 ![]() |
45 | P/S | 102 ![]() |
rs373770383 ![]() |
0.8927 | None | gnomAD-3.1.2 | 1.38053E-04 | |
8308 ![]() |
45 | P/S | 102 ![]() |
rs373770383 ![]() |
0.8927 | None | gnomAD-4.0.0 | 2.23131E-05 | |
8309 ![]() |
46 | A/E | 115 ![]() |
rs186598275 ![]() |
0.2881 | None | gnomAD-2.1.1 | 4.02E-06 | |
8309 ![]() |
46 | A/E | 115 ![]() |
rs186598275 ![]() |
0.2881 | None | gnomAD-3.1.2 | 6.57E-06 | |
8309 ![]() |
46 | A/E | 115 ![]() |
rs186598275 ![]() |
0.2881 | None | gnomAD-4.0.0 | 6.5678E-06 | |
8309 ![]() |
46 | A/V | 115 ![]() |
rs186598275 ![]() |
0.2881 | None | gnomAD-2.1.1 | 4.02E-06 | |
8309 ![]() |
46 | A/V | 115 ![]() |
rs186598275 ![]() |
0.2881 | None | gnomAD-3.1.2 | 6.57E-06 | |
8309 ![]() |
46 | A/V | 115 ![]() |
rs186598275 ![]() |
0.2881 | None | gnomAD-4.0.0 | 6.5678E-06 | |
8310 ![]() |
47 | Y/C | 121 ![]() |
rs879064808 ![]() |
0.2394 | None | gnomAD-2.1.1 | 4.02E-06 | |
8310 ![]() |
47 | Y/C | 121 ![]() |
rs879064808 ![]() |
0.2394 | None | gnomAD-4.0.0 | 3.42137E-06 | |
8310 ![]() |
47 | Y/H | 121 ![]() |
None | 0.2394 | None | gnomAD-4.0.0 | 6.84287E-07 | |
8310 ![]() |
47 | Y/N | 121 ![]() |
rs397517511 ![]() |
0.2394 | None | gnomAD-2.1.1 | 1.21E-05 | |
8310 ![]() |
47 | Y/N | 121 ![]() |
rs397517511 ![]() |
0.2394 | None | gnomAD-3.1.2 | 1.31E-05 | |
8310 ![]() |
47 | Y/N | 121 ![]() |
rs397517511 ![]() |
0.2394 | None | gnomAD-4.0.0 | 4.33831E-06 | |
8311 ![]() |
48 | K/N | 122 ![]() |
rs749075617 ![]() |
0.5229 | None | gnomAD-2.1.1 | 4.02E-06 | |
8311 ![]() |
48 | K/N | 122 ![]() |
rs749075617 ![]() |
0.5229 | None | gnomAD-4.0.0 | 1.59155E-06 | |
8312 ![]() |
49 | M/I | 123 ![]() |
None | 0.2664 | None | gnomAD-4.0.0 | 1.59157E-06 | |
8312 ![]() |
49 | M/T | 123 ![]() |
rs756314449 ![]() |
0.2664 | None | gnomAD-2.1.1 | 4.02E-06 | |
8312 ![]() |
49 | M/T | 123 ![]() |
rs756314449 ![]() |
0.2664 | None | gnomAD-3.1.2 | 6.57E-06 | |
8312 ![]() |
49 | M/T | 123 ![]() |
rs756314449 ![]() |
0.2664 | None | gnomAD-4.0.0 | 5.12522E-06 | |
8312 ![]() |
49 | M/V | 123 ![]() |
rs777456359 ![]() |
0.2664 | None | gnomAD-2.1.1 | 4.02E-06 | |
8312 ![]() |
49 | M/V | 123 ![]() |
rs777456359 ![]() |
0.2664 | None | gnomAD-4.0.0 | 1.59155E-06 | |
8314 ![]() |
51 | F/L | 127 ![]() |
rs570367600 ![]() |
0.2327 | None | gnomAD-2.1.1 | 1.61E-05 | |
8314 ![]() |
51 | F/L | 127 ![]() |
rs570367600 ![]() |
0.2327 | None | gnomAD-3.1.2 | 6.57E-06 | |
8314 ![]() |
51 | F/L | 127 ![]() |
rs570367600 ![]() |
0.2327 | None | 1000 genomes | 1.99681E-04 | |
8314 ![]() |
51 | F/L | 127 ![]() |
rs570367600 ![]() |
0.2327 | None | gnomAD-4.0.0 | 1.11405E-05 | |
8317 ![]() |
54 | N/I | 134 ![]() |
rs1278554973 ![]() |
0.5014 | None | gnomAD-2.1.1 | 4.02E-06 | |
8317 ![]() |
54 | N/I | 134 ![]() |
rs1278554973 ![]() |
0.5014 | None | gnomAD-4.0.0 | 4.10542E-06 | |
8317 ![]() |
54 | N/K | 134 ![]() |
rs370154022 ![]() |
0.5014 | None | gnomAD-2.1.1 | 1.61E-05 | |
8317 ![]() |
54 | N/K | 134 ![]() |
rs370154022 ![]() |
0.5014 | None | gnomAD-3.1.2 | 7.89E-05 | |
8317 ![]() |
54 | N/K | 134 ![]() |
rs370154022 ![]() |
0.5014 | None | gnomAD-4.0.0 | 1.11553E-05 | |
8318 ![]() |
55 | V/I | 135 ![]() |
rs200103997 ![]() |
0.1834 | None | gnomAD-2.1.1 | 5.74659E-04 | |
8318 ![]() |
55 | V/I | 135 ![]() |
rs200103997 ![]() |
0.1834 | None | gnomAD-3.1.2 | 5.45572E-04 | |
8318 ![]() |
55 | V/I | 135 ![]() |
rs200103997 ![]() |
0.1834 | None | 1000 genomes | 1.99681E-04 | |
8318 ![]() |
55 | V/I | 135 ![]() |
rs200103997 ![]() |
0.1834 | None | gnomAD-4.0.0 | 7.49198E-04 | |
8319 ![]() |
56 | A/P | 136 ![]() |
None | 0.0930 | None | gnomAD-4.0.0 | 4.80129E-06 | |
8319 ![]() |
56 | A/T | 136 ![]() |
rs2077763797 ![]() |
0.0930 | None | gnomAD-3.1.2 | 6.57E-06 | |
8319 ![]() |
56 | A/T | 136 ![]() |
rs2077763797 ![]() |
0.0930 | None | gnomAD-4.0.0 | 6.57263E-06 | |
8319 ![]() |
56 | A/V | 136 ![]() |
None | 0.0930 | None | gnomAD-4.0.0 | 2.40064E-06 | |
8320 ![]() |
57 | S/C | 137 ![]() |
rs1374151646 ![]() |
0.1446 | None | gnomAD-3.1.2 | 1.31E-05 | |
8320 ![]() |
57 | S/C | 137 ![]() |
rs1374151646 ![]() |
0.1446 | None | gnomAD-4.0.0 | 1.31377E-05 | |
8320 ![]() |
57 | S/F | 137 ![]() |
rs1374151646 ![]() |
0.1446 | None | gnomAD-2.1.1 | 4.02E-06 | |
8320 ![]() |
57 | S/F | 137 ![]() |
rs1374151646 ![]() |
0.1446 | None | gnomAD-4.0.0 | 4.77415E-06 | |
8322 ![]() |
59 | V/A | 139 ![]() |
None | 0.2617 | None | gnomAD-4.0.0 | 4.77412E-06 | |
8322 ![]() |
59 | V/I | 139 ![]() |
rs201571580 ![]() |
0.2617 | None | gnomAD-2.1.1 | 4.02E-06 | |
8322 ![]() |
59 | V/I | 139 ![]() |
rs201571580 ![]() |
0.2617 | None | gnomAD-4.0.0 | 6.84232E-07 | |
8322 ![]() |
59 | V/L | 139 ![]() |
rs201571580 ![]() |
0.2617 | None | gnomAD-2.1.1 | 5.88962E-04 | |
8322 ![]() |
59 | V/L | 139 ![]() |
rs201571580 ![]() |
0.2617 | None | gnomAD-3.1.2 | 4.86349E-04 | |
8322 ![]() |
59 | V/L | 139 ![]() |
rs201571580 ![]() |
0.2617 | None | gnomAD-4.0.0 | 6.38259E-04 | |
8324 ![]() |
61 | N/K | 141 ![]() |
rs879030954 ![]() |
0.5461 | None | gnomAD-4.0.0 | 4.10537E-06 | |
8325 ![]() |
62 | K/E | 143 ![]() |
rs72648984 ![]() |
0.6672 | None | gnomAD-2.1.1 | 5.58292E-03 | |
8325 ![]() |
62 | K/E | 143 ![]() |
rs72648984 ![]() |
0.6672 | None | gnomAD-3.1.2 | 4.66442E-03 | |
8325 ![]() |
62 | K/E | 143 ![]() |
rs72648984 ![]() |
0.6672 | None | 1000 genomes | 1.59744E-03 | |
8325 ![]() |
62 | K/E | 143 ![]() |
rs72648984 ![]() |
0.6672 | None | gnomAD-4.0.0 | 5.69265E-03 | |
8325 ![]() |
62 | K/N | 143 ![]() |
rs373995644 ![]() |
0.6672 | None | gnomAD-2.1.1 | 4.02E-06 | |
8327 ![]() |
64 | D/V | 145 ![]() |
None | 0.2791 | None | gnomAD-4.0.0 | 1.5914E-06 | |
8328 ![]() |
65 | H/N | 146 ![]() |
rs767212475 ![]() |
0.8645 | None | gnomAD-2.1.1 | 4.02E-06 | |
8329 ![]() |
66 | S/G | 148 ![]() |
None | 0.5410 | None | gnomAD-4.0.0 | 2.40064E-06 | |
8329 ![]() |
66 | S/N | 148 ![]() |
None | 0.5410 | None | gnomAD-4.0.0 | 4.78965E-06 | |
8330 ![]() |
67 | D/H | 149 ![]() |
None | 0.1418 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8331 ![]() |
68 | V/E | 151 ![]() |
rs773888026 ![]() |
0.2797 | None | gnomAD-2.1.1 | 4.02E-06 | |
8331 ![]() |
68 | V/E | 151 ![]() |
rs773888026 ![]() |
0.2797 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8332 ![]() |
69 | G/E | 152 ![]() |
rs2077756630 ![]() |
0.2195 | None | gnomAD-3.1.2 | 6.57E-06 | |
8332 ![]() |
69 | G/E | 152 ![]() |
rs2077756630 ![]() |
0.2195 | None | gnomAD-4.0.0 | 6.57212E-06 | |
8333 ![]() |
70 | E/D | 153 ![]() |
rs1438182051 ![]() |
0.5040 | None | gnomAD-2.1.1 | 3.18E-05 | |
8333 ![]() |
70 | E/D | 153 ![]() |
rs1438182051 ![]() |
0.5040 | None | gnomAD-3.1.2 | 6.57E-06 | |
8333 ![]() |
70 | E/D | 153 ![]() |
rs1438182051 ![]() |
0.5040 | None | gnomAD-4.0.0 | 2.56224E-06 | |
8333 ![]() |
70 | E/G | 153 ![]() |
rs770811407 ![]() |
0.5040 | None | gnomAD-2.1.1 | 4.02E-06 | |
8333 ![]() |
70 | E/G | 153 ![]() |
rs770811407 ![]() |
0.5040 | None | gnomAD-4.0.0 | 7.95689E-06 | |
8335 ![]() |
72 | S/A | 155 ![]() |
rs773006091 ![]() |
0.2275 | None | gnomAD-2.1.1 | 4.02E-06 | |
8335 ![]() |
72 | S/A | 155 ![]() |
rs773006091 ![]() |
0.2275 | None | gnomAD-4.0.0 | 6.84237E-07 | |
8335 ![]() |
72 | S/T | 155 ![]() |
None | 0.2275 | None | gnomAD-4.0.0 | 6.84237E-07 | |
8336 ![]() |
73 | C/G | 156 ![]() |
None | 0.0714 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8336 ![]() |
73 | C/S | 156 ![]() |
None | 0.0714 | None | gnomAD-4.0.0 | 1.20032E-06 | |
8339 ![]() |
76 | D/E | 159 ![]() |
rs1283273345 ![]() |
0.3546 | None | gnomAD-2.1.1 | 4.02E-06 | |
8339 ![]() |
76 | D/E | 159 ![]() |
rs1283273345 ![]() |
0.3546 | None | gnomAD-4.0.0 | 4.77458E-06 | |
8340 ![]() |
77 | N/S | 161 ![]() |
None | 0.1707 | None | gnomAD-4.0.0 | 2.40064E-06 | |
8341 ![]() |
78 | S/R | 162 ![]() |
rs1221926854 ![]() |
0.6272 | None | gnomAD-2.1.1 | 4.02E-06 | |
8341 ![]() |
78 | S/R | 162 ![]() |
rs1221926854 ![]() |
0.6272 | None | gnomAD-4.0.0 | 6.84318E-07 | |
8343 ![]() |
80 | G/A | 164 ![]() |
rs1288642142 ![]() |
0.2637 | None | gnomAD-2.1.1 | 4.02E-06 | |
8343 ![]() |
80 | G/A | 164 ![]() |
rs1288642142 ![]() |
0.2637 | None | gnomAD-4.0.0 | 1.59204E-06 | |
8344 ![]() |
81 | A/E | 165 ![]() |
rs748045267 ![]() |
0.3413 | None | gnomAD-2.1.1 | 4.03E-06 | |
8344 ![]() |
81 | A/E | 165 ![]() |
rs748045267 ![]() |
0.3413 | None | gnomAD-4.0.0 | 1.59253E-06 | |
8344 ![]() |
81 | A/T | 165 ![]() |
rs2077751372 ![]() |
0.3413 | None | gnomAD-4.0.0 | 1.36876E-06 | |
8345 ![]() |
82 | V/A | 166 ![]() |
None | 0.1191 | None | gnomAD-4.0.0 | 6.37397E-06 | |
8346 ![]() |
83 | A/T | 168 ![]() |
rs755302381 ![]() |
0.2884 | None | gnomAD-2.1.1 | 2.01E-05 | |
8346 ![]() |
83 | A/T | 168 ![]() |
rs755302381 ![]() |
0.2884 | None | gnomAD-3.1.2 | 1.31E-05 | |
8346 ![]() |
83 | A/T | 168 ![]() |
rs755302381 ![]() |
0.2884 | None | gnomAD-4.0.0 | 8.06179E-06 | |
8346 ![]() |
83 | A/V | 168 ![]() |
rs747055472 ![]() |
0.2884 | None | gnomAD-2.1.1 | 4.03E-06 | |
8346 ![]() |
83 | A/V | 168 ![]() |
rs747055472 ![]() |
0.2884 | None | gnomAD-4.0.0 | 1.5941E-06 | |
8347 ![]() |
84 | S/P | 169 ![]() |
rs1345180729 ![]() |
0.1278 | None | gnomAD-2.1.1 | 4.03E-06 | |
8347 ![]() |
84 | S/P | 169 ![]() |
rs1345180729 ![]() |
0.1278 | None | gnomAD-4.0.0 | 1.59401E-06 | |
8349 ![]() |
86 | A/G | 172 ![]() |
rs397517513 ![]() |
0.0950 | None | gnomAD-2.1.1 | 1.79E-05 | |
8349 ![]() |
86 | A/G | 172 ![]() |
rs397517513 ![]() |
0.0950 | None | gnomAD-3.1.2 | 1.97E-05 | |
8349 ![]() |
86 | A/G | 172 ![]() |
rs397517513 ![]() |
0.0950 | None | gnomAD-4.0.0 | 3.597E-05 | |
8349 ![]() |
86 | A/P | 172 ![]() |
rs1459194268 ![]() |
0.0950 | None | gnomAD-2.1.1 | 4.03E-06 | |
8349 ![]() |
86 | A/P | 172 ![]() |
rs1459194268 ![]() |
0.0950 | None | gnomAD-4.0.0 | 1.59459E-06 | |
8349 ![]() |
86 | A/V | 172 ![]() |
rs397517513 ![]() |
0.0950 | None | gnomAD-3.1.2 | 1.97E-05 | |
8349 ![]() |
86 | A/V | 172 ![]() |
rs397517513 ![]() |
0.0950 | None | gnomAD-4.0.0 | 1.9714E-05 | |
8350 ![]() |
87 | V/A | 173 ![]() |
rs915984764 ![]() |
0.1905 | None | gnomAD-4.0.0 | 2.0553E-06 | |
8350 ![]() |
87 | V/M | 173 ![]() |
None | 0.1905 | None | gnomAD-3.1.2 | 6.57E-06 | |
8350 ![]() |
87 | V/M | 173 ![]() |
None | 0.1905 | None | gnomAD-4.0.0 | 6.5722E-06 | |
8352 ![]() |
89 | V/L | 175 ![]() |
rs750897859 ![]() |
0.3289 | None | gnomAD-2.1.1 | 4.04E-06 | |
8352 ![]() |
89 | V/L | 175 ![]() |
rs750897859 ![]() |
0.3289 | None | gnomAD-4.0.0 | 9.58653E-06 | |
8353 ![]() |
90 | I/N | 177 ![]() |
None | 1.0303 | None | gnomAD-4.0.0 | 1.59872E-06 | |
8353 ![]() |
90 | I/V | 177 ![]() |
None | 1.0303 | None | gnomAD-4.0.0 | 1.37112E-06 |