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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
15208 | 1 | L/F | 1 | rs1339878633 | 0.1775 | None | gnomAD-2.1.1 | 4.1E-06 | |
15208 | 1 | L/F | 1 | rs1339878633 | 0.1775 | None | gnomAD-4.0.0 | 2.74473E-06 | |
15209 | 2 | R/S | 2 | None | 0.4070 | None | gnomAD-4.0.0 | 6.85951E-07 | |
15210 | 3 | I/M | 3 | None | 0.2167 | None | gnomAD-4.0.0 | 1.37185E-06 | |
15210 | 3 | I/N | 3 | rs193086479 | 0.2167 | None | gnomAD-2.1.1 | 4.08E-06 | |
15210 | 3 | I/N | 3 | rs193086479 | 0.2167 | None | gnomAD-3.1.2 | 6.58E-06 | |
15210 | 3 | I/N | 3 | rs193086479 | 0.2167 | None | 1000 genomes | 1.99681E-04 | |
15210 | 3 | I/N | 3 | rs193086479 | 0.2167 | None | gnomAD-4.0.0 | 6.57808E-06 | |
15210 | 3 | I/V | 3 | None | 0.2167 | None | gnomAD-4.0.0 | 1.37187E-06 | |
15211 | 4 | V/I | 4 | rs1387120198 | 0.3429 | None | gnomAD-2.1.1 | 7.21E-06 | |
15211 | 4 | V/I | 4 | rs1387120198 | 0.3429 | None | gnomAD-3.1.2 | 2.64E-05 | |
15211 | 4 | V/I | 4 | rs1387120198 | 0.3429 | None | gnomAD-4.0.0 | 1.17969E-05 | |
15212 | 5 | V/I | 5 | None | 0.3615 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15214 | 7 | L/P | 8 | rs2154211474 | 0.1367 | None | gnomAD-3.1.2 | 6.58E-06 | |
15214 | 7 | L/P | 8 | rs2154211474 | 0.1367 | None | gnomAD-4.0.0 | 6.57843E-06 | |
15215 | 8 | K/E | 9 | None | 0.7893 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15215 | 8 | K/T | 9 | rs374244504 | 0.7893 | None | gnomAD-2.1.1 | 1.22E-05 | |
15215 | 8 | K/T | 9 | rs374244504 | 0.7893 | None | gnomAD-3.1.2 | 1.32E-05 | |
15215 | 8 | K/T | 9 | rs374244504 | 0.7893 | None | 1000 genomes | 1.99681E-04 | |
15215 | 8 | K/T | 9 | rs374244504 | 0.7893 | None | gnomAD-4.0.0 | 5.13608E-06 | |
15217 | 10 | T/I | 13 | None | 0.2791 | None | gnomAD-4.0.0 | 3.18912E-06 | |
15218 | 11 | R/Q | 14 | rs548035065 | 0.5958 | None | gnomAD-2.1.1 | 8.09E-06 | |
15218 | 11 | R/Q | 14 | rs548035065 | 0.5958 | None | gnomAD-3.1.2 | 1.98E-05 | |
15218 | 11 | R/Q | 14 | rs548035065 | 0.5958 | None | 1000 genomes | 1.99681E-04 | |
15218 | 11 | R/Q | 14 | rs548035065 | 0.5958 | None | gnomAD-4.0.0 | 7.44314E-06 | |
15218 | 11 | R/W | 14 | rs371621174 | 0.5958 | None | gnomAD-2.1.1 | 4.05E-05 | |
15218 | 11 | R/W | 14 | rs371621174 | 0.5958 | None | gnomAD-3.1.2 | 4.61E-05 | |
15218 | 11 | R/W | 14 | rs371621174 | 0.5958 | None | gnomAD-4.0.0 | 4.5905E-05 | |
15219 | 12 | V/M | 16 | rs765315826 | 0.1686 | None | gnomAD-2.1.1 | 4.05E-06 | |
15219 | 12 | V/M | 16 | rs765315826 | 0.1686 | None | gnomAD-4.0.0 | 1.59445E-06 | |
15222 | 15 | Q/K | 24 | rs2058168500 | 0.6809 | None | gnomAD-4.0.0 | 8.21724E-06 | |
15223 | 16 | Q/E | 25 | None | 0.4024 | None | gnomAD-4.0.0 | 6.84776E-07 | |
15223 | 16 | Q/H | 25 | rs1261811728 | 0.4024 | None | gnomAD-2.1.1 | 4.05E-06 | |
15223 | 16 | Q/H | 25 | rs1261811728 | 0.4024 | None | gnomAD-4.0.0 | 6.84763E-07 | |
15224 | 17 | E/K | 26 | None | 0.3717 | None | gnomAD-4.0.0 | 1.36951E-06 | |
15225 | 18 | V/A | 28 | rs1449233780 | 0.1268 | None | gnomAD-2.1.1 | 4.05E-06 | |
15225 | 18 | V/A | 28 | rs1449233780 | 0.1268 | None | gnomAD-4.0.0 | 1.59415E-06 | |
15225 | 18 | V/F | 28 | None | 0.1268 | None | gnomAD-4.0.0 | 6.84749E-07 | |
15225 | 18 | V/I | 28 | rs757519339 | 0.1268 | None | gnomAD-2.1.1 | 8.09E-06 | |
15225 | 18 | V/I | 28 | rs757519339 | 0.1268 | None | gnomAD-3.1.2 | 6.58E-06 | |
15225 | 18 | V/I | 28 | rs757519339 | 0.1268 | None | gnomAD-4.0.0 | 1.24047E-06 | |
15228 | 21 | N/I | 31 | None | 0.4743 | None | gnomAD-4.0.0 | 1.59407E-06 | |
15229 | 22 | C/Y | 33 | rs753818213 | 0.1109 | None | gnomAD-2.1.1 | 8.09E-06 | |
15229 | 22 | C/Y | 33 | rs753818213 | 0.1109 | None | gnomAD-4.0.0 | 3.18814E-06 | |
15230 | 23 | E/G | 34 | rs1209787066 | 0.2832 | None | gnomAD-2.1.1 | 4.04E-06 | |
15230 | 23 | E/G | 34 | rs1209787066 | 0.2832 | None | gnomAD-4.0.0 | 3.1879E-06 | |
15232 | 25 | N/D | 38 | None | 0.2364 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15233 | 26 | T/I | 40 | rs1267073931 | 0.3195 | None | gnomAD-2.1.1 | 3.19E-05 | |
15233 | 26 | T/I | 40 | rs1267073931 | 0.3195 | None | gnomAD-3.1.2 | 1.98E-05 | |
15233 | 26 | T/I | 40 | rs1267073931 | 0.3195 | None | gnomAD-4.0.0 | 2.48085E-06 | |
15233 | 26 | T/N | 40 | None | 0.3195 | None | gnomAD-4.0.0 | 3.42352E-06 | |
15234 | 27 | E/K | 41 | rs1457956988 | 0.8061 | None | gnomAD-3.1.2 | 1.32E-05 | |
15234 | 27 | E/K | 41 | rs1457956988 | 0.8061 | None | gnomAD-4.0.0 | 7.69807E-06 | |
15235 | 28 | G/D | 43 | rs376949328 | 0.5321 | None | gnomAD-2.1.1 | 1.21E-05 | |
15235 | 28 | G/D | 43 | rs376949328 | 0.5321 | None | gnomAD-4.0.0 | 2.05408E-06 | |
15236 | 29 | A/T | 44 | None | 0.1388 | None | gnomAD-4.0.0 | 2.40064E-06 | |
15239 | 32 | K/N | 47 | None | 0.6865 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15241 | 34 | F/L | 49 | None | 0.1947 | None | gnomAD-4.0.0 | 2.73866E-06 | |
15242 | 35 | R/G | 50 | rs373778707 | 0.3549 | None | gnomAD-2.1.1 | 2.51E-05 | |
15242 | 35 | R/G | 50 | rs373778707 | 0.3549 | None | gnomAD-3.1.2 | 4.61E-05 | |
15242 | 35 | R/G | 50 | rs373778707 | 0.3549 | None | gnomAD-4.0.0 | 2.10851E-05 | |
15242 | 35 | R/K | 50 | rs140795503 | 0.3549 | None | gnomAD-2.1.1 | 9.7E-05 | |
15242 | 35 | R/K | 50 | rs140795503 | 0.3549 | None | gnomAD-3.1.2 | 3.29E-05 | |
15242 | 35 | R/K | 50 | rs140795503 | 0.3549 | None | 1000 genomes | 1.99681E-04 | |
15242 | 35 | R/K | 50 | rs140795503 | 0.3549 | None | gnomAD-4.0.0 | 6.57351E-05 | |
15244 | 37 | E/A | 52 | rs759829017 | 0.6236 | None | gnomAD-2.1.1 | 4.04E-06 | |
15244 | 37 | E/A | 52 | rs759829017 | 0.6236 | None | gnomAD-3.1.2 | 6.58E-06 | |
15244 | 37 | E/A | 52 | rs759829017 | 0.6236 | None | gnomAD-4.0.0 | 5.13219E-06 | |
15245 | 38 | E/A | 55 | rs1310228213 | 0.7151 | None | gnomAD-2.1.1 | 3.19E-05 | |
15245 | 38 | E/A | 55 | rs1310228213 | 0.7151 | None | gnomAD-3.1.2 | 1.97E-05 | |
15245 | 38 | E/A | 55 | rs1310228213 | 0.7151 | None | gnomAD-4.0.0 | 1.97483E-05 | |
15245 | 38 | E/K | 55 | rs774793155 | 0.7151 | None | gnomAD-4.0.0 | 1.59387E-06 | |
15246 | 39 | A/G | 56 | None | 0.2954 | None | gnomAD-4.0.0 | 6.84668E-07 | |
15247 | 40 | I/L | 58 | rs373857517 | 0.1131 | None | gnomAD-2.1.1 | 1.79E-05 | |
15247 | 40 | I/L | 58 | rs373857517 | 0.1131 | None | gnomAD-3.1.2 | 3.95E-05 | |
15247 | 40 | I/L | 58 | rs373857517 | 0.1131 | None | gnomAD-4.0.0 | 2.72867E-05 | |
15247 | 40 | I/M | 58 | None | 0.1131 | None | gnomAD-4.0.0 | 1.59365E-06 | |
15247 | 40 | I/T | 58 | rs2058158687 | 0.1131 | None | gnomAD-4.0.0 | 4.79251E-06 | |
15247 | 40 | I/V | 58 | rs373857517 | 0.1131 | None | gnomAD-2.1.1 | 4.04E-06 | |
15247 | 40 | I/V | 58 | rs373857517 | 0.1131 | None | gnomAD-3.1.2 | 2.63E-05 | |
15247 | 40 | I/V | 58 | rs373857517 | 0.1131 | None | gnomAD-4.0.0 | 2.63345E-05 | |
15248 | 41 | F/I | 59 | None | 0.7845 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15248 | 41 | F/L | 59 | None | 0.7845 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15249 | 42 | D/H | 70 | rs1467540790 | 0.6514 | None | gnomAD-3.1.2 | 6.59E-06 | |
15249 | 42 | D/H | 70 | rs1467540790 | 0.6514 | None | gnomAD-4.0.0 | 6.58623E-06 | |
15249 | 42 | D/N | 70 | None | 0.6514 | None | gnomAD-4.0.0 | 1.59361E-06 | |
15250 | 43 | S/C | 73 | rs776190494 | 0.2399 | None | gnomAD-2.1.1 | 8.08E-05 | |
15250 | 43 | S/C | 73 | rs776190494 | 0.2399 | None | gnomAD-3.1.2 | 1.32E-05 | |
15250 | 43 | S/C | 73 | rs776190494 | 0.2399 | None | gnomAD-4.0.0 | 4.03089E-05 | |
15250 | 43 | S/G | 73 | None | 0.2399 | None | gnomAD-4.0.0 | 6.84641E-07 | |
15250 | 43 | S/T | 73 | None | 0.2399 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15254 | 47 | I/F | 122 | rs72677226 | 0.2411 | None | gnomAD-2.1.1 | 1.21199E-04 | |
15254 | 47 | I/F | 122 | rs72677226 | 0.2411 | None | gnomAD-3.1.2 | 3.29E-05 | |
15254 | 47 | I/F | 122 | rs72677226 | 0.2411 | None | gnomAD-4.0.0 | 5.13194E-05 | |
15254 | 47 | I/M | 122 | None | 0.2411 | None | gnomAD-4.0.0 | 1.59356E-06 | |
15254 | 47 | I/N | 122 | rs2058156310 | 0.2411 | None | gnomAD-3.1.2 | 6.6E-06 | |
15254 | 47 | I/N | 122 | rs2058156310 | 0.2411 | None | gnomAD-4.0.0 | 6.5957E-06 | |
15254 | 47 | I/V | 122 | rs72677226 | 0.2411 | None | gnomAD-2.1.1 | 4.04E-06 | |
15254 | 47 | I/V | 122 | rs72677226 | 0.2411 | None | gnomAD-4.0.0 | 1.59356E-06 | |
15255 | 48 | I/F | 123 | None | 0.2451 | None | gnomAD-4.0.0 | 1.59355E-06 | |
15255 | 48 | I/T | 123 | rs746579432 | 0.2451 | None | gnomAD-2.1.1 | 8.08E-06 | |
15255 | 48 | I/T | 123 | rs746579432 | 0.2451 | None | gnomAD-3.1.2 | 6.59E-06 | |
15255 | 48 | I/T | 123 | rs746579432 | 0.2451 | None | gnomAD-4.0.0 | 5.1329E-06 | |
15255 | 48 | I/V | 123 | None | 0.2451 | None | gnomAD-4.0.0 | 1.59355E-06 | |
15259 | 52 | D/V | 131 | None | 0.6650 | None | gnomAD-4.0.0 | 4.10766E-06 | |
15260 | 53 | L/P | 134 | rs552053581 | 0.2468 | None | gnomAD-2.1.1 | 4.88581E-04 | |
15260 | 53 | L/P | 134 | rs552053581 | 0.2468 | None | gnomAD-3.1.2 | 1.05485E-04 | |
15260 | 53 | L/P | 134 | rs552053581 | 0.2468 | None | 1000 genomes | 1.99681E-04 | |
15260 | 53 | L/P | 134 | rs552053581 | 0.2468 | None | gnomAD-4.0.0 | 2.41241E-04 | |
15260 | 53 | L/V | 134 | rs758419306 | 0.2468 | None | gnomAD-2.1.1 | 4.04E-06 | |
15260 | 53 | L/V | 134 | rs758419306 | 0.2468 | None | gnomAD-3.1.2 | 1.32E-05 | |
15260 | 53 | L/V | 134 | rs758419306 | 0.2468 | None | gnomAD-4.0.0 | 4.06173E-06 | |
15261 | 54 | V/D | 135 | rs978618827 | 0.2814 | None | gnomAD-2.1.1 | 4.04E-06 | |
15261 | 54 | V/D | 135 | rs978618827 | 0.2814 | None | gnomAD-3.1.2 | 1.97E-05 | |
15261 | 54 | V/D | 135 | rs978618827 | 0.2814 | None | gnomAD-4.0.0 | 7.4407E-06 | |
15262 | 55 | Y/F | 136 | rs2058153201 | 0.1274 | None | gnomAD-4.0.0 | 1.5934E-06 | |
15262 | 55 | Y/S | 136 | None | 0.1274 | None | gnomAD-4.0.0 | 3.18679E-06 | |
15263 | 56 | T/N | 137 | rs1198734931 | 0.1487 | None | gnomAD-2.1.1 | 3.19E-05 | |
15263 | 56 | T/N | 137 | rs1198734931 | 0.1487 | None | gnomAD-3.1.2 | 1.32E-05 | |
15263 | 56 | T/N | 137 | rs1198734931 | 0.1487 | None | gnomAD-4.0.0 | 3.10064E-06 | |
15264 | 57 | L/F | 138 | None | 0.0662 | None | gnomAD-4.0.0 | 4.79222E-06 | |
15264 | 57 | L/P | 138 | None | 0.0662 | None | gnomAD-4.0.0 | 1.59332E-06 | |
15264 | 57 | L/V | 138 | None | 0.0662 | None | gnomAD-4.0.0 | 6.84603E-07 | |
15265 | 58 | R/G | 139 | rs764279926 | 0.4057 | None | gnomAD-2.1.1 | 4.04E-06 | |
15265 | 58 | R/G | 139 | rs764279926 | 0.4057 | None | gnomAD-4.0.0 | 3.42291E-06 | |
15266 | 59 | I/N | 140 | rs1214768698 | 0.0712 | None | gnomAD-2.1.1 | 4.04E-06 | |
15266 | 59 | I/N | 140 | rs1214768698 | 0.0712 | None | gnomAD-4.0.0 | 1.59328E-06 | |
15268 | 61 | D/G | 143 | rs2058150967 | 0.4249 | None | gnomAD-4.0.0 | 1.20033E-06 | |
15268 | 61 | D/H | 143 | None | 0.4249 | None | gnomAD-4.0.0 | 2.40065E-06 | |
15269 | 62 | A/P | 144 | None | 0.0748 | None | gnomAD-4.0.0 | 1.59334E-06 | |
15269 | 62 | A/V | 144 | rs1576550520 | 0.0748 | None | gnomAD-4.0.0 | 1.59332E-06 | |
15270 | 63 | H/P | 145 | None | 0.4291 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15272 | 65 | D/E | 148 | rs540340364 | 0.6272 | None | gnomAD-2.1.1 | 4.03E-06 | |
15272 | 65 | D/E | 148 | rs540340364 | 0.6272 | None | 1000 genomes | 1.99681E-04 | |
15272 | 65 | D/E | 148 | rs540340364 | 0.6272 | None | gnomAD-4.0.0 | 1.59335E-06 | |
15272 | 65 | D/G | 148 | None | 0.6272 | None | gnomAD-4.0.0 | 1.59333E-06 | |
15272 | 65 | D/N | 148 | rs559878591 | 0.6272 | None | gnomAD-2.1.1 | 2.15E-05 | |
15272 | 65 | D/N | 148 | rs559878591 | 0.6272 | None | gnomAD-3.1.2 | 3.29E-05 | |
15272 | 65 | D/N | 148 | rs559878591 | 0.6272 | None | 1000 genomes | 1.99681E-04 | |
15272 | 65 | D/N | 148 | rs559878591 | 0.6272 | None | gnomAD-4.0.0 | 8.68073E-06 | |
15275 | 68 | A/V | 152 | rs760059046 | 0.1130 | None | gnomAD-2.1.1 | 8.07E-06 | |
15275 | 68 | A/V | 152 | rs760059046 | 0.1130 | None | gnomAD-4.0.0 | 4.78004E-06 | |
15276 | 69 | N/H | 153 | None | 0.3028 | None | gnomAD-4.0.0 | 1.59329E-06 | |
15277 | 70 | Y/C | 154 | rs1274378566 | 0.0901 | None | gnomAD-2.1.1 | 4.03E-06 | |
15277 | 70 | Y/C | 154 | rs1274378566 | 0.0901 | None | gnomAD-4.0.0 | 1.59329E-06 | |
15279 | 72 | V/L | 156 | None | 0.0885 | None | gnomAD-4.0.0 | 6.84593E-07 | |
15279 | 72 | V/M | 156 | rs727504197 | 0.0885 | None | gnomAD-2.1.1 | 1.07E-05 | |
15279 | 72 | V/M | 156 | rs727504197 | 0.0885 | None | gnomAD-4.0.0 | 5.47674E-06 | |
15280 | 73 | S/F | 157 | rs763279178 | 0.1541 | None | gnomAD-2.1.1 | 1.21E-05 | |
15280 | 73 | S/F | 157 | rs763279178 | 0.1541 | None | gnomAD-4.0.0 | 3.18677E-06 | |
15281 | 74 | L/F | 158 | rs574423141 | 0.1019 | None | gnomAD-2.1.1 | 7.26E-05 | |
15281 | 74 | L/F | 158 | rs574423141 | 0.1019 | None | gnomAD-3.1.2 | 1.97E-05 | |
15281 | 74 | L/F | 158 | rs574423141 | 0.1019 | None | 1000 genomes | 1.99681E-04 | |
15281 | 74 | L/F | 158 | rs574423141 | 0.1019 | None | gnomAD-4.0.0 | 2.23216E-05 | |
15282 | 75 | T/A | 159 | rs1248616113 | 0.2787 | None | gnomAD-4.0.0 | 4.79218E-06 | |
15283 | 76 | N/H | 161 | rs992729815 | 0.1528 | None | gnomAD-3.1.2 | 6.58E-06 | |
15283 | 76 | N/H | 161 | rs992729815 | 0.1528 | None | gnomAD-4.0.0 | 2.03025E-06 | |
15283 | 76 | N/S | 161 | rs1326395034 | 0.1528 | None | gnomAD-2.1.1 | 4.03E-06 | |
15283 | 76 | N/S | 161 | rs1326395034 | 0.1528 | None | gnomAD-3.1.2 | 1.32E-05 | |
15283 | 76 | N/S | 161 | rs1326395034 | 0.1528 | None | gnomAD-4.0.0 | 6.20078E-06 | |
15284 | 77 | H/R | 162 | None | 0.7449 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15285 | 78 | R/S | 163 | rs794729439 | 0.2800 | None | gnomAD-4.0.0 | 3.60097E-06 | |
15291 | 84 | S/N | 170 | None | 0.1639 | None | gnomAD-4.0.0 | 1.50621E-05 | |
15291 | 84 | S/R | 170 | None | 0.1639 | None | gnomAD-4.0.0 | 1.59361E-06 | |
15292 | 85 | A/T | 171 | None | 0.3256 | None | gnomAD-4.0.0 | 6.8465E-07 | |
15292 | 85 | A/V | 171 | rs1419332401 | 0.3256 | None | gnomAD-3.1.2 | 1.32E-05 | |
15292 | 85 | A/V | 171 | rs1419332401 | 0.3256 | None | gnomAD-4.0.0 | 1.31621E-05 | |
15293 | 86 | A/G | 172 | rs1453100283 | 0.0870 | None | gnomAD-2.1.1 | 4.03E-06 | |
15293 | 86 | A/G | 172 | rs1453100283 | 0.0870 | None | gnomAD-4.0.0 | 6.84666E-07 | |
15293 | 86 | A/S | 172 | None | 0.0870 | None | gnomAD-4.0.0 | 1.59372E-06 | |
15293 | 86 | A/V | 172 | None | 0.0870 | None | gnomAD-4.0.0 | 6.84666E-07 | |
15297 | 90 | V/A | 178 | rs775158152 | 0.1396 | None | gnomAD-2.1.1 | 1.79E-05 | |
15297 | 90 | V/A | 178 | rs775158152 | 0.1396 | None | gnomAD-3.1.2 | 6.58E-06 | |
15297 | 90 | V/A | 178 | rs775158152 | 0.1396 | None | gnomAD-4.0.0 | 1.67464E-05 |