10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
I | G | A | Q | D | C | L | V | C | K | A | G | S | Q | I | R | I | P | A | V | I | K | G | R | P | T | P | K | S | S | W | E | F | D | G | K | A | K | K | A | M | K | D | G | V | H | D | I | P | E | D | A | Q | L | E | T | A | E | N | S | S | V | I | I | I | P | E | C | K | R | S | H | T | G | K | Y | S | I | T | A | K | N | K | A | G | Q | K | T | A | N | C | R | V | K | V |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
18382 | 1 | I/T | 1 | None | 0.6604 | None | gnomAD-4.0.0 | 6.87451E-07 | |
18382 | 1 | I/V | 1 | rs1233345100 | 0.6604 | None | gnomAD-2.1.1 | 8.24E-06 | |
18382 | 1 | I/V | 1 | rs1233345100 | 0.6604 | None | gnomAD-4.0.0 | 3.43698E-06 | |
18386 | 5 | D/E | 9 | rs1368488104 | 1.1164 | None | gnomAD-2.1.1 | 4.05E-06 | |
18386 | 5 | D/E | 9 | rs1368488104 | 1.1164 | None | gnomAD-4.0.0 | 1.59672E-06 | |
18386 | 5 | D/H | 9 | None | 1.1164 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18387 | 6 | C/S | 11 | None | 0.3020 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18389 | 8 | V/L | 14 | None | 0.5007 | None | gnomAD-4.0.0 | 2.40064E-06 | |
18390 | 9 | C/Y | 16 | rs759877537 | 0.1604 | None | gnomAD-2.1.1 | 4.04E-06 | |
18393 | 12 | G/S | 24 | rs2053610320 | 0.3568 | None | gnomAD-3.1.2 | 6.58E-06 | |
18393 | 12 | G/S | 24 | rs2053610320 | 0.3568 | None | gnomAD-4.0.0 | 6.58068E-06 | |
18395 | 14 | Q/K | 26 | None | 0.4791 | None | gnomAD-4.0.0 | 1.59377E-06 | |
18396 | 15 | I/V | 28 | None | 0.1305 | None | gnomAD-4.0.0 | 1.59353E-06 | |
18399 | 18 | P/S | 31 | rs774591174 | 0.4383 | None | gnomAD-2.1.1 | 4.03E-06 | |
18399 | 18 | P/S | 31 | rs774591174 | 0.4383 | None | gnomAD-3.1.2 | 6.58E-06 | |
18399 | 18 | P/S | 31 | rs774591174 | 0.4383 | None | gnomAD-4.0.0 | 1.0542E-05 | |
18399 | 18 | P/T | 31 | None | 0.4383 | None | gnomAD-4.0.0 | 4.79225E-06 | |
18400 | 19 | A/T | 33 | rs769472573 | 0.1949 | None | gnomAD-2.1.1 | 3.22E-05 | |
18400 | 19 | A/T | 33 | rs769472573 | 0.1949 | None | gnomAD-3.1.2 | 1.32E-05 | |
18400 | 19 | A/T | 33 | rs769472573 | 0.1949 | None | gnomAD-4.0.0 | 1.9842E-05 | |
18400 | 19 | A/V | 33 | None | 0.1949 | None | gnomAD-4.0.0 | 2.40064E-06 | |
18402 | 21 | I/L | 35 | None | 0.2106 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18402 | 21 | I/N | 35 | rs776899398 | 0.2106 | None | gnomAD-2.1.1 | 4.03E-06 | |
18402 | 21 | I/N | 35 | rs776899398 | 0.2106 | None | gnomAD-4.0.0 | 6.84591E-07 | |
18402 | 21 | I/S | 35 | rs776899398 | 0.2106 | None | gnomAD-2.1.1 | 4.84E-05 | |
18402 | 21 | I/S | 35 | rs776899398 | 0.2106 | None | gnomAD-3.1.2 | 1.64573E-04 | |
18402 | 21 | I/S | 35 | rs776899398 | 0.2106 | None | gnomAD-4.0.0 | 3.10052E-05 | |
18403 | 22 | K/E | 38 | None | 0.9400 | None | gnomAD-4.0.0 | 1.59329E-06 | |
18404 | 23 | G/V | 40 | rs746548796 | 0.3624 | None | gnomAD-2.1.1 | 7.16E-06 | |
18404 | 23 | G/V | 40 | rs746548796 | 0.3624 | None | gnomAD-3.1.2 | 6.58E-06 | |
18404 | 23 | G/V | 40 | rs746548796 | 0.3624 | None | gnomAD-4.0.0 | 2.56567E-06 | |
18405 | 24 | R/C | 41 | rs199656264 | 0.9629 | None | gnomAD-2.1.1 | 3.58E-05 | |
18405 | 24 | R/C | 41 | rs199656264 | 0.9629 | None | gnomAD-3.1.2 | 3.29E-05 | |
18405 | 24 | R/C | 41 | rs199656264 | 0.9629 | None | gnomAD-4.0.0 | 3.16274E-05 | |
18405 | 24 | R/H | 41 | rs771921519 | 0.9629 | None | gnomAD-2.1.1 | 2.82E-05 | |
18405 | 24 | R/H | 41 | rs771921519 | 0.9629 | None | gnomAD-4.0.0 | 1.02688E-05 | |
18406 | 25 | P/S | 42 | None | 0.4979 | None | gnomAD-4.0.0 | 1.59328E-06 | |
18407 | 26 | T/A | 43 | None | 0.6264 | None | gnomAD-4.0.0 | 1.59329E-06 | |
18407 | 26 | T/I | 43 | None | 0.6264 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18408 | 27 | P/S | 44 | rs1400469796 | 0.2185 | None | gnomAD-3.1.2 | 1.98E-05 | |
18408 | 27 | P/S | 44 | rs1400469796 | 0.2185 | None | gnomAD-4.0.0 | 5.07684E-06 | |
18409 | 28 | K/E | 45 | None | 0.9113 | None | gnomAD-4.0.0 | 2.40064E-06 | |
18410 | 29 | S/L | 46 | rs1184146630 | 0.3603 | None | gnomAD-2.1.1 | 4.03E-06 | |
18410 | 29 | S/L | 46 | rs1184146630 | 0.3603 | None | gnomAD-4.0.0 | 1.5933E-06 | |
18410 | 29 | S/P | 46 | rs778636992 | 0.3603 | None | gnomAD-2.1.1 | 1.21E-05 | |
18410 | 29 | S/P | 46 | rs778636992 | 0.3603 | None | gnomAD-3.1.2 | 6.59E-06 | |
18410 | 29 | S/P | 46 | rs778636992 | 0.3603 | None | gnomAD-4.0.0 | 5.13206E-06 | |
18413 | 32 | E/K | 49 | rs2053599230 | 0.6359 | None | gnomAD-4.0.0 | 1.36917E-06 | |
18414 | 33 | F/I | 50 | None | 0.0941 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18416 | 35 | G/R | 52 | rs749556953 | 0.2781 | None | gnomAD-2.1.1 | 4.03E-06 | |
18417 | 36 | K/N | 55 | rs1282114647 | 0.9723 | None | gnomAD-2.1.1 | 4.03E-06 | |
18417 | 36 | K/N | 55 | rs1282114647 | 0.9723 | None | gnomAD-3.1.2 | 6.58E-06 | |
18417 | 36 | K/N | 55 | rs1282114647 | 0.9723 | None | gnomAD-4.0.0 | 3.84873E-06 | |
18418 | 37 | A/T | 56 | rs536719544 | 0.1703 | None | gnomAD-2.1.1 | 1.61E-05 | |
18418 | 37 | A/T | 56 | rs536719544 | 0.1703 | None | gnomAD-3.1.2 | 6.59E-06 | |
18418 | 37 | A/T | 56 | rs536719544 | 0.1703 | None | 1000 genomes | 1.99681E-04 | |
18418 | 37 | A/T | 56 | rs536719544 | 0.1703 | None | gnomAD-4.0.0 | 3.84818E-06 | |
18419 | 38 | K/E | 58 | rs756145817 | 0.6293 | None | gnomAD-2.1.1 | 8.05E-06 | |
18419 | 38 | K/E | 58 | rs756145817 | 0.6293 | None | gnomAD-4.0.0 | 3.18656E-06 | |
18419 | 38 | K/Q | 58 | None | 0.6293 | None | gnomAD-4.0.0 | 1.59328E-06 | |
18420 | 39 | K/E | 59 | None | 0.3029 | None | gnomAD-4.0.0 | 4.10753E-06 | |
18421 | 40 | A/P | 60 | None | 0.2839 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18421 | 40 | A/V | 60 | rs1277409025 | 0.2839 | None | gnomAD-2.1.1 | 4.03E-06 | |
18421 | 40 | A/V | 60 | rs1277409025 | 0.2839 | None | gnomAD-4.0.0 | 3.18696E-06 | |
18422 | 41 | M/K | 61 | rs1335806402 | 0.3759 | None | gnomAD-2.1.1 | 4.03E-06 | |
18422 | 41 | M/K | 61 | rs1335806402 | 0.3759 | None | gnomAD-4.0.0 | 3.18698E-06 | |
18422 | 41 | M/R | 61 | None | 0.3759 | None | gnomAD-4.0.0 | 1.59349E-06 | |
18423 | 42 | K/N | 62 | rs367799017 | 0.3342 | None | gnomAD-2.1.1 | 8.06E-06 | |
18423 | 42 | K/N | 62 | rs367799017 | 0.3342 | None | gnomAD-3.1.2 | 2.63E-05 | |
18423 | 42 | K/N | 62 | rs367799017 | 0.3342 | None | gnomAD-4.0.0 | 8.68232E-06 | |
18423 | 42 | K/R | 62 | rs752722625 | 0.3342 | None | gnomAD-2.1.1 | 1.21E-05 | |
18423 | 42 | K/R | 62 | rs752722625 | 0.3342 | None | gnomAD-4.0.0 | 4.78037E-06 | |
18424 | 43 | D/G | 63 | rs1553674352 | 0.7981 | None | gnomAD-4.0.0 | 4.78258E-06 | |
18427 | 46 | H/R | 66 | None | 0.1559 | None | gnomAD-4.0.0 | 1.20033E-06 | |
18428 | 47 | D/E | 67 | rs1343753783 | 0.2822 | None | gnomAD-2.1.1 | 4.05E-06 | |
18428 | 47 | D/E | 67 | rs1343753783 | 0.2822 | None | gnomAD-4.0.0 | 6.84838E-07 | |
18428 | 47 | D/G | 67 | rs1430526014 | 0.2822 | None | gnomAD-2.1.1 | 4.05E-06 | |
18428 | 47 | D/G | 67 | rs1430526014 | 0.2822 | None | gnomAD-4.0.0 | 1.59451E-06 | |
18428 | 47 | D/N | 67 | None | 0.2822 | None | gnomAD-4.0.0 | 1.20033E-06 | |
18429 | 48 | I/M | 68 | None | 0.1036 | None | gnomAD-4.0.0 | 2.05506E-06 | |
18429 | 48 | I/T | 68 | None | 0.1036 | None | gnomAD-4.0.0 | 1.5954E-06 | |
18430 | 49 | P/S | 69 | rs970752412 | 0.1177 | None | gnomAD-2.1.1 | 4.05E-06 | |
18430 | 49 | P/S | 69 | rs970752412 | 0.1177 | None | gnomAD-4.0.0 | 1.37005E-06 | |
18431 | 50 | E/K | 70 | rs756341923 | 0.4943 | None | gnomAD-2.1.1 | 1.22E-05 | |
18431 | 50 | E/K | 70 | rs756341923 | 0.4943 | None | gnomAD-3.1.2 | 6.58E-06 | |
18431 | 50 | E/K | 70 | rs756341923 | 0.4943 | None | gnomAD-4.0.0 | 9.30744E-06 | |
18433 | 52 | A/T | 102 | rs2053557019 | 0.1287 | None | gnomAD-4.0.0 | 1.59686E-06 | |
18434 | 53 | Q/E | 122 | None | 0.5244 | None | gnomAD-4.0.0 | 1.59882E-06 | |
18436 | 55 | E/K | 125 | rs201510986 | 0.5347 | None | gnomAD-2.1.1 | 3.32E-05 | |
18436 | 55 | E/K | 125 | rs201510986 | 0.5347 | None | gnomAD-3.1.2 | 1.71199E-04 | |
18436 | 55 | E/K | 125 | rs201510986 | 0.5347 | None | gnomAD-4.0.0 | 2.49524E-05 | |
18437 | 56 | T/A | 127 | rs1378437369 | 0.5565 | None | gnomAD-4.0.0 | 4.82531E-06 | |
18437 | 56 | T/I | 127 | None | 0.5565 | None | gnomAD-4.0.0 | 1.61925E-06 | |
18438 | 57 | A/T | 130 | rs1416049620 | 0.4259 | None | gnomAD-4.0.0 | 1.62326E-06 | |
18439 | 58 | E/D | 131 | None | 0.9160 | None | gnomAD-4.0.0 | 1.37737E-06 | |
18439 | 58 | E/G | 131 | None | 0.9160 | None | gnomAD-4.0.0 | 1.61583E-06 | |
18439 | 58 | E/K | 131 | rs866683190 | 0.9160 | None | gnomAD-2.1.1 | 4.23E-06 | |
18439 | 58 | E/K | 131 | rs866683190 | 0.9160 | None | gnomAD-4.0.0 | 4.14132E-06 | |
18440 | 59 | N/K | 134 | rs911563094 | 0.6268 | None | gnomAD-3.1.2 | 6.58E-06 | |
18440 | 59 | N/K | 134 | rs911563094 | 0.6268 | None | gnomAD-4.0.0 | 2.4939E-06 | |
18440 | 59 | N/S | 134 | rs747117847 | 0.6268 | None | gnomAD-2.1.1 | 4.2E-06 | |
18445 | 64 | I/V | 139 | None | 0.1737 | None | gnomAD-4.0.0 | 2.40064E-06 | |
18447 | 66 | P/A | 141 | rs2053509362 | 0.4215 | None | gnomAD-3.1.2 | 1.32E-05 | |
18447 | 66 | P/A | 141 | rs2053509362 | 0.4215 | None | gnomAD-4.0.0 | 1.86542E-06 | |
18447 | 66 | P/L | 141 | rs397517622 | 0.4215 | None | gnomAD-2.1.1 | 2.46E-05 | |
18447 | 66 | P/L | 141 | rs397517622 | 0.4215 | None | gnomAD-3.1.2 | 1.32E-05 | |
18447 | 66 | P/L | 141 | rs397517622 | 0.4215 | None | gnomAD-4.0.0 | 3.29571E-05 | |
18447 | 66 | P/R | 141 | rs397517622 | 0.4215 | None | gnomAD-2.1.1 | 8.22E-06 | |
18447 | 66 | P/R | 141 | rs397517622 | 0.4215 | None | gnomAD-4.0.0 | 2.06011E-06 | |
18447 | 66 | P/S | 141 | None | 0.4215 | None | gnomAD-4.0.0 | 6.8668E-07 | |
18448 | 67 | E/A | 143 | rs1297622212 | 0.7243 | None | gnomAD-2.1.1 | 4.11E-06 | |
18448 | 67 | E/A | 143 | rs1297622212 | 0.7243 | None | gnomAD-4.0.0 | 1.37305E-06 | |
18451 | 70 | R/L | 146 | None | 0.7696 | None | gnomAD-4.0.0 | 6.86275E-07 | |
18451 | 70 | R/Q | 146 | rs755767286 | 0.7696 | None | gnomAD-2.1.1 | 2.87E-05 | |
18451 | 70 | R/Q | 146 | rs755767286 | 0.7696 | None | gnomAD-3.1.2 | 1.32E-05 | |
18451 | 70 | R/Q | 146 | rs755767286 | 0.7696 | None | gnomAD-4.0.0 | 2.05083E-05 | |
18452 | 71 | S/C | 148 | rs567515550 | 0.2247 | None | gnomAD-2.1.1 | 1.23E-05 | |
18452 | 71 | S/C | 148 | rs567515550 | 0.2247 | None | gnomAD-3.1.2 | 3.29E-05 | |
18452 | 71 | S/C | 148 | rs567515550 | 0.2247 | None | 1000 genomes | 1.99681E-04 | |
18452 | 71 | S/C | 148 | rs567515550 | 0.2247 | None | gnomAD-4.0.0 | 1.42872E-05 | |
18452 | 71 | S/F | 148 | None | 0.2247 | None | gnomAD-4.0.0 | 6.86021E-07 | |
18452 | 71 | S/P | 148 | rs372541479 | 0.2247 | None | gnomAD-2.1.1 | 9.05E-05 | |
18452 | 71 | S/P | 148 | rs372541479 | 0.2247 | None | gnomAD-3.1.2 | 2.36876E-04 | |
18452 | 71 | S/P | 148 | rs372541479 | 0.2247 | None | 1000 genomes | 3.99361E-04 | |
18452 | 71 | S/P | 148 | rs372541479 | 0.2247 | None | gnomAD-4.0.0 | 3.72736E-05 | |
18453 | 72 | H/D | 149 | None | 0.1467 | None | gnomAD-4.0.0 | 3.20112E-06 | |
18453 | 72 | H/R | 149 | None | 0.1467 | None | gnomAD-4.0.0 | 6.85901E-07 | |
18454 | 73 | T/A | 151 | None | 0.3042 | None | gnomAD-4.0.0 | 6.85952E-07 | |
18454 | 73 | T/I | 151 | rs1171368715 | 0.3042 | None | gnomAD-2.1.1 | 4.08E-06 | |
18454 | 73 | T/I | 151 | rs1171368715 | 0.3042 | None | gnomAD-3.1.2 | 1.97E-05 | |
18454 | 73 | T/I | 151 | rs1171368715 | 0.3042 | None | gnomAD-4.0.0 | 1.92576E-05 | |
18454 | 73 | T/R | 151 | None | 0.3042 | None | gnomAD-4.0.0 | 6.8599E-07 | |
18455 | 74 | G/V | 152 | rs2154193105 | 0.1511 | None | gnomAD-3.1.2 | 6.58E-06 | |
18455 | 74 | G/V | 152 | rs2154193105 | 0.1511 | None | gnomAD-4.0.0 | 6.57583E-06 | |
18456 | 75 | K/I | 153 | None | 0.3434 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18457 | 76 | Y/C | 154 | None | 0.1192 | None | gnomAD-4.0.0 | 2.74262E-06 | |
18458 | 77 | S/G | 155 | rs368890202 | 0.1604 | None | gnomAD-2.1.1 | 4.07E-06 | |
18458 | 77 | S/R | 155 | rs200550947 | 0.1604 | None | gnomAD-2.1.1 | 4.11537E-04 | |
18458 | 77 | S/R | 155 | rs200550947 | 0.1604 | None | gnomAD-3.1.2 | 6.05096E-04 | |
18458 | 77 | S/R | 155 | rs200550947 | 0.1604 | None | 1000 genomes | 1.99681E-04 | |
18458 | 77 | S/R | 155 | rs200550947 | 0.1604 | None | gnomAD-4.0.0 | 6.4023E-04 | |
18459 | 78 | I/S | 156 | None | 0.1348 | None | gnomAD-4.0.0 | 3.19958E-06 | |
18460 | 79 | T/A | 157 | rs727503600 | 0.2607 | None | gnomAD-2.1.1 | 6.52E-05 | |
18460 | 79 | T/A | 157 | rs727503600 | 0.2607 | None | gnomAD-3.1.2 | 1.11794E-04 | |
18460 | 79 | T/A | 157 | rs727503600 | 0.2607 | None | gnomAD-4.0.0 | 6.58568E-05 | |
18460 | 79 | T/I | 157 | rs372778818 | 0.2607 | None | gnomAD-2.1.1 | 7.97E-05 | |
18460 | 79 | T/I | 157 | rs372778818 | 0.2607 | None | gnomAD-3.1.2 | 1.84223E-04 | |
18460 | 79 | T/I | 157 | rs372778818 | 0.2607 | None | 1000 genomes | 3.99361E-04 | |
18460 | 79 | T/I | 157 | rs372778818 | 0.2607 | None | gnomAD-4.0.0 | 3.66573E-05 | |
18461 | 80 | A/P | 158 | None | 0.1956 | None | gnomAD-4.0.0 | 2.05869E-06 | |
18461 | 80 | A/T | 158 | rs776650966 | 0.1956 | None | gnomAD-2.1.1 | 8.18E-06 | |
18461 | 80 | A/T | 158 | rs776650966 | 0.1956 | None | gnomAD-4.0.0 | 2.05869E-06 | |
18461 | 80 | A/V | 158 | rs1278548100 | 0.1956 | None | gnomAD-2.1.1 | 8.18E-06 | |
18461 | 80 | A/V | 158 | rs1278548100 | 0.1956 | None | gnomAD-4.0.0 | 1.60242E-06 | |
18462 | 81 | K/Q | 159 | rs747050691 | 0.5261 | None | gnomAD-2.1.1 | 2.45E-05 | |
18462 | 81 | K/Q | 159 | rs747050691 | 0.5261 | None | gnomAD-3.1.2 | 6.58E-06 | |
18462 | 81 | K/Q | 159 | rs747050691 | 0.5261 | None | gnomAD-4.0.0 | 4.97053E-06 | |
18464 | 83 | K/Q | 162 | rs565100137 | 0.9624 | None | gnomAD-2.1.1 | 3.28E-05 | |
18464 | 83 | K/Q | 162 | rs565100137 | 0.9624 | None | gnomAD-3.1.2 | 1.97E-05 | |
18464 | 83 | K/Q | 162 | rs565100137 | 0.9624 | None | 1000 genomes | 1.99681E-04 | |
18464 | 83 | K/Q | 162 | rs565100137 | 0.9624 | None | gnomAD-4.0.0 | 2.85925E-05 | |
18465 | 84 | A/E | 163 | rs1375595248 | 0.7391 | None | gnomAD-2.1.1 | 4.1E-06 | |
18465 | 84 | A/E | 163 | rs1375595248 | 0.7391 | None | gnomAD-4.0.0 | 4.81413E-06 | |
18465 | 84 | A/S | 163 | rs899078606 | 0.7391 | None | gnomAD-2.1.1 | 2.05E-05 | |
18465 | 84 | A/S | 163 | rs899078606 | 0.7391 | None | gnomAD-3.1.2 | 2.63E-05 | |
18465 | 84 | A/S | 163 | rs899078606 | 0.7391 | None | gnomAD-4.0.0 | 2.98436E-05 | |
18465 | 84 | A/T | 163 | rs899078606 | 0.7391 | None | gnomAD-2.1.1 | 8.2E-06 | |
18465 | 84 | A/T | 163 | rs899078606 | 0.7391 | None | gnomAD-3.1.2 | 6.58E-06 | |
18465 | 84 | A/T | 163 | rs899078606 | 0.7391 | None | gnomAD-4.0.0 | 1.86523E-06 | |
18466 | 85 | G/R | 164 | rs772677752 | 0.3761 | None | gnomAD-2.1.1 | 7.66E-05 | |
18466 | 85 | G/R | 164 | rs772677752 | 0.3761 | None | gnomAD-3.1.2 | 7.24E-05 | |
18466 | 85 | G/R | 164 | rs772677752 | 0.3761 | None | gnomAD-4.0.0 | 5.28844E-05 | |
18467 | 86 | Q/K | 165 | None | 0.6670 | None | gnomAD-4.0.0 | 1.60775E-06 | |
18468 | 87 | K/N | 166 | None | 0.7841 | None | gnomAD-4.0.0 | 6.87648E-07 | |
18468 | 87 | K/R | 166 | None | 0.7841 | None | gnomAD-4.0.0 | 1.60985E-06 | |
18469 | 88 | T/P | 168 | rs1044328956 | 0.4289 | None | gnomAD-2.1.1 | 2.09E-05 | |
18469 | 88 | T/P | 168 | rs1044328956 | 0.4289 | None | gnomAD-3.1.2 | 1.97E-05 | |
18469 | 88 | T/P | 168 | rs1044328956 | 0.4289 | None | gnomAD-4.0.0 | 8.10793E-06 | |
18470 | 89 | A/T | 169 | rs1447736099 | 0.4545 | None | gnomAD-3.1.2 | 6.58E-06 | |
18470 | 89 | A/V | 169 | rs1374641956 | 0.4545 | None | gnomAD-2.1.1 | 4.21E-06 | |
18470 | 89 | A/V | 169 | rs1374641956 | 0.4545 | None | gnomAD-4.0.0 | 1.17247E-05 | |
18471 | 90 | N/D | 171 | None | 0.5720 | None | gnomAD-4.0.0 | 1.62081E-06 | |
18471 | 90 | N/I | 171 | None | 0.5720 | None | gnomAD-4.0.0 | 4.87824E-06 | |
18471 | 90 | N/S | 171 | rs1310909549 | 0.5720 | None | gnomAD-2.1.1 | 1.7E-05 | |
18471 | 90 | N/S | 171 | rs1310909549 | 0.5720 | None | gnomAD-4.0.0 | 1.62608E-06 | |
18472 | 91 | C/G | 172 | rs2053489886 | 0.1778 | None | gnomAD-4.0.0 | 4.83489E-06 | |
18472 | 91 | C/R | 172 | rs2053489886 | 0.1778 | None | gnomAD-4.0.0 | 6.90698E-07 | |
18473 | 92 | R/G | 173 | rs72646822 | 0.6947 | None | gnomAD-2.1.1 | 1.65709E-04 | |
18473 | 92 | R/G | 173 | rs72646822 | 0.6947 | None | gnomAD-3.1.2 | 4.2087E-04 | |
18473 | 92 | R/G | 173 | rs72646822 | 0.6947 | None | 1000 genomes | 5.99042E-04 | |
18473 | 92 | R/G | 173 | rs72646822 | 0.6947 | None | gnomAD-4.0.0 | 8.6278E-05 | |
18473 | 92 | R/S | 173 | None | 0.6947 | None | gnomAD-4.0.0 | 1.62881E-06 | |
18473 | 92 | R/T | 173 | rs2053488389 | 0.6947 | None | gnomAD-3.1.2 | 6.58E-06 | |
18473 | 92 | R/T | 173 | rs2053488389 | 0.6947 | None | gnomAD-4.0.0 | 6.57825E-06 | |
18474 | 93 | V/I | 174 | rs779583004 | 0.1199 | None | gnomAD-2.1.1 | 1.02594E-04 | |
18474 | 93 | V/I | 174 | rs779583004 | 0.1199 | None | gnomAD-3.1.2 | 1.32E-05 | |
18474 | 93 | V/I | 174 | rs779583004 | 0.1199 | None | gnomAD-4.0.0 | 3.7544E-05 | |
18476 | 95 | V/I | 177 | rs780649835 | 0.1194 | None | gnomAD-2.1.1 | 8.58E-06 | |
18476 | 95 | V/I | 177 | rs780649835 | 0.1194 | None | gnomAD-4.0.0 | 1.38402E-06 | |
18476 | 95 | V/L | 177 | rs780649835 | 0.1194 | None | gnomAD-2.1.1 | 4.29E-06 | |
18476 | 95 | V/L | 177 | rs780649835 | 0.1194 | None | gnomAD-4.0.0 | 6.92008E-07 |