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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
16264 | 3 | L/V | 3 | rs1243976427 | 0.3313 | None | gnomAD-2.1.1 | 1.63E-05 | |
16264 | 3 | L/V | 3 | rs1243976427 | 0.3313 | None | gnomAD-3.1.2 | 1.32E-05 | |
16264 | 3 | L/V | 3 | rs1243976427 | 0.3313 | None | gnomAD-4.0.0 | 6.43784E-06 | |
16265 | 4 | L/F | 8 | None | 0.9128 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16266 | 5 | A/D | 9 | rs2056981023 | 0.6604 | None | gnomAD-3.1.2 | 6.58E-06 | |
16266 | 5 | A/D | 9 | rs2056981023 | 0.6604 | None | gnomAD-4.0.0 | 6.58267E-06 | |
16266 | 5 | A/S | 9 | rs1189172328 | 0.6604 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16266 | 5 | A/V | 9 | None | 0.6604 | None | gnomAD-4.0.0 | 1.59811E-06 | |
16267 | 6 | G/D | 11 | rs917290755 | 0.3354 | None | gnomAD-2.1.1 | 4.06E-06 | |
16267 | 6 | G/D | 11 | rs917290755 | 0.3354 | None | gnomAD-3.1.2 | 6.58E-06 | |
16267 | 6 | G/D | 11 | rs917290755 | 0.3354 | None | gnomAD-4.0.0 | 6.58432E-06 | |
16267 | 6 | G/V | 11 | None | 0.3354 | None | gnomAD-4.0.0 | 1.59677E-06 | |
16268 | 7 | L/I | 13 | rs1474027032 | 0.3516 | None | gnomAD-3.1.2 | 1.97E-05 | |
16268 | 7 | L/I | 13 | rs1474027032 | 0.3516 | None | gnomAD-4.0.0 | 5.83361E-05 | |
16270 | 9 | V/A | 16 | rs2056979046 | 0.1916 | None | gnomAD-4.0.0 | 4.78585E-06 | |
16270 | 9 | V/I | 16 | rs533178407 | 0.1916 | None | gnomAD-2.1.1 | 3.65E-05 | |
16270 | 9 | V/I | 16 | rs533178407 | 0.1916 | None | gnomAD-3.1.2 | 1.32E-05 | |
16270 | 9 | V/I | 16 | rs533178407 | 0.1916 | None | 1000 genomes | 1.99681E-04 | |
16270 | 9 | V/I | 16 | rs533178407 | 0.1916 | None | gnomAD-4.0.0 | 1.30284E-05 | |
16271 | 10 | K/E | 18 | rs2056978022 | 0.4666 | None | gnomAD-3.1.2 | 6.58E-06 | |
16271 | 10 | K/E | 18 | rs2056978022 | 0.4666 | None | gnomAD-4.0.0 | 6.58129E-06 | |
16272 | 11 | A/T | 23 | None | 0.2131 | None | gnomAD-4.0.0 | 1.59525E-06 | |
16274 | 13 | T/A | 25 | None | 0.3189 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16274 | 13 | T/N | 25 | rs1576463553 | 0.3189 | None | gnomAD-4.0.0 | 1.59486E-06 | |
16274 | 13 | T/P | 25 | rs564109979 | 0.3189 | None | gnomAD-2.1.1 | 4.05E-06 | |
16274 | 13 | T/P | 25 | rs564109979 | 0.3189 | None | gnomAD-3.1.2 | 6.58E-06 | |
16274 | 13 | T/P | 25 | rs564109979 | 0.3189 | None | 1000 genomes | 1.99681E-04 | |
16274 | 13 | T/P | 25 | rs564109979 | 0.3189 | None | gnomAD-4.0.0 | 6.57635E-06 | |
16275 | 14 | K/E | 26 | None | 0.4034 | None | gnomAD-4.0.0 | 6.84864E-07 | |
16275 | 14 | K/N | 26 | rs2056975496 | 0.4034 | None | gnomAD-3.1.2 | 6.58E-06 | |
16275 | 14 | K/N | 26 | rs2056975496 | 0.4034 | None | gnomAD-4.0.0 | 4.3422E-06 | |
16275 | 14 | K/Q | 26 | None | 0.4034 | None | gnomAD-4.0.0 | 6.84864E-07 | |
16276 | 15 | I/T | 28 | rs759916327 | 0.1425 | None | gnomAD-2.1.1 | 3.24E-05 | |
16276 | 15 | I/T | 28 | rs759916327 | 0.1425 | None | gnomAD-4.0.0 | 1.91754E-05 | |
16276 | 15 | I/V | 28 | None | 0.1425 | None | gnomAD-4.0.0 | 2.40064E-06 | |
16277 | 16 | E/K | 29 | rs1325831010 | 0.4687 | None | gnomAD-2.1.1 | 4.05E-06 | |
16277 | 16 | E/K | 29 | rs1325831010 | 0.4687 | None | gnomAD-4.0.0 | 1.59478E-06 | |
16279 | 18 | P/A | 31 | rs867039661 | 0.5257 | None | gnomAD-4.0.0 | 6.84814E-07 | |
16279 | 18 | P/L | 31 | None | 0.5257 | None | gnomAD-4.0.0 | 1.59456E-06 | |
16279 | 18 | P/T | 31 | None | 0.5257 | None | gnomAD-4.0.0 | 1.36963E-06 | |
16280 | 19 | A/T | 33 | rs372911542 | 0.2368 | None | gnomAD-2.1.1 | 4.85E-05 | |
16280 | 19 | A/T | 33 | rs372911542 | 0.2368 | None | gnomAD-3.1.2 | 5.93E-05 | |
16280 | 19 | A/T | 33 | rs372911542 | 0.2368 | None | gnomAD-4.0.0 | 3.53571E-05 | |
16281 | 20 | T/I | 34 | rs1553703631 | 0.6406 | None | gnomAD-3.1.2 | 6.58E-06 | |
16281 | 20 | T/I | 34 | rs1553703631 | 0.6406 | None | gnomAD-4.0.0 | 6.58293E-06 | |
16282 | 21 | V/A | 35 | rs878854396 | 0.2925 | None | gnomAD-4.0.0 | 1.59435E-06 | |
16282 | 21 | V/I | 35 | rs776265864 | 0.2925 | None | gnomAD-2.1.1 | 5.02E-05 | |
16282 | 21 | V/I | 35 | rs776265864 | 0.2925 | None | gnomAD-3.1.2 | 6.58E-05 | |
16282 | 21 | V/I | 35 | rs776265864 | 0.2925 | None | gnomAD-4.0.0 | 4.59015E-05 | |
16284 | 23 | G/R | 40 | rs368527534 | 0.3901 | None | gnomAD-2.1.1 | 3.23E-05 | |
16284 | 23 | G/R | 40 | rs368527534 | 0.3901 | None | gnomAD-3.1.2 | 1.98E-05 | |
16284 | 23 | G/R | 40 | rs368527534 | 0.3901 | None | gnomAD-4.0.0 | 4.03166E-05 | |
16285 | 24 | K/Q | 41 | rs780017546 | 0.9248 | None | gnomAD-2.1.1 | 2.83E-05 | |
16285 | 24 | K/Q | 41 | rs780017546 | 0.9248 | None | gnomAD-3.1.2 | 3.29E-05 | |
16285 | 24 | K/Q | 41 | rs780017546 | 0.9248 | None | gnomAD-4.0.0 | 1.11643E-05 | |
16286 | 25 | P/T | 42 | rs1033904978 | 0.5961 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16287 | 26 | E/K | 43 | None | 0.6216 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16288 | 27 | P/L | 44 | None | 0.2314 | None | gnomAD-4.0.0 | 6.84763E-07 | |
16288 | 27 | P/R | 44 | rs745848084 | 0.2314 | None | gnomAD-2.1.1 | 4.04E-06 | |
16288 | 27 | P/R | 44 | rs745848084 | 0.2314 | None | gnomAD-4.0.0 | 3.42381E-06 | |
16288 | 27 | P/S | 44 | rs894986526 | 0.2314 | None | gnomAD-4.0.0 | 3.18848E-06 | |
16289 | 28 | K/T | 45 | None | 0.7475 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16290 | 29 | I/V | 46 | rs778793317 | 0.2244 | None | gnomAD-2.1.1 | 1.21E-05 | |
16290 | 29 | I/V | 46 | rs778793317 | 0.2244 | None | gnomAD-4.0.0 | 7.97067E-06 | |
16293 | 32 | T/K | 49 | None | 0.2243 | None | gnomAD-4.0.0 | 1.44039E-05 | |
16295 | 34 | A/S | 51 | rs757122712 | 0.5479 | None | gnomAD-2.1.1 | 7.17E-06 | |
16295 | 34 | A/S | 51 | rs757122712 | 0.5479 | None | gnomAD-3.1.2 | 1.98E-05 | |
16295 | 34 | A/S | 51 | rs757122712 | 0.5479 | None | gnomAD-4.0.0 | 5.13363E-06 | |
16295 | 34 | A/V | 51 | None | 0.5479 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16297 | 36 | M/I | 55 | rs754110019 | 0.7244 | None | gnomAD-2.1.1 | 1.21E-05 | |
16297 | 36 | M/I | 55 | rs754110019 | 0.7244 | None | gnomAD-4.0.0 | 5.47771E-06 | |
16297 | 36 | M/R | 55 | rs1488829244 | 0.7244 | None | gnomAD-2.1.1 | 4.04E-06 | |
16297 | 36 | M/R | 55 | rs1488829244 | 0.7244 | None | gnomAD-4.0.0 | 1.36942E-06 | |
16297 | 36 | M/T | 55 | None | 0.7244 | None | gnomAD-4.0.0 | 9.58597E-06 | |
16297 | 36 | M/V | 55 | None | 0.7244 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16298 | 37 | I/F | 56 | rs778200357 | 0.7816 | None | gnomAD-2.1.1 | 1.62E-05 | |
16298 | 37 | I/F | 56 | rs778200357 | 0.7816 | None | gnomAD-4.0.0 | 7.96968E-06 | |
16301 | 40 | Q/H | 70 | rs886038833 | 0.5275 | None | gnomAD-2.1.1 | 8.08E-06 | |
16301 | 40 | Q/H | 70 | rs886038833 | 0.5275 | None | gnomAD-3.1.2 | 6.59E-06 | |
16301 | 40 | Q/H | 70 | rs886038833 | 0.5275 | None | gnomAD-4.0.0 | 3.72147E-06 | |
16302 | 41 | D/E | 73 | rs2056963801 | 0.3804 | None | gnomAD-4.0.0 | 6.84735E-07 | |
16303 | 42 | K/N | 109 | None | 1.0792 | None | gnomAD-4.0.0 | 6.84727E-07 | |
16303 | 42 | K/R | 109 | None | 1.0792 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16304 | 43 | R/I | 115 | None | 0.1912 | None | gnomAD-4.0.0 | 2.0542E-06 | |
16306 | 45 | T/A | 122 | rs767671184 | 0.4296 | None | gnomAD-2.1.1 | 4.04E-06 | |
16306 | 45 | T/A | 122 | rs767671184 | 0.4296 | None | gnomAD-4.0.0 | 6.84727E-07 | |
16306 | 45 | T/I | 122 | rs2056961264 | 0.4296 | None | gnomAD-3.1.2 | 6.59E-06 | |
16306 | 45 | T/I | 122 | rs2056961264 | 0.4296 | None | gnomAD-4.0.0 | 6.59074E-06 | |
16306 | 45 | T/P | 122 | rs767671184 | 0.4296 | None | gnomAD-2.1.1 | 4.04E-06 | |
16306 | 45 | T/P | 122 | rs767671184 | 0.4296 | None | gnomAD-4.0.0 | 3.42364E-06 | |
16307 | 46 | I/M | 123 | rs755394057 | 0.2229 | None | gnomAD-4.0.0 | 6.84721E-07 | |
16307 | 46 | I/T | 123 | None | 0.2229 | None | gnomAD-4.0.0 | 2.7389E-06 | |
16307 | 46 | I/V | 123 | rs1559813119 | 0.2229 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16309 | 48 | N/H | 127 | None | 0.5190 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16309 | 48 | N/T | 127 | rs752071275 | 0.5190 | None | gnomAD-2.1.1 | 8.07E-06 | |
16309 | 48 | N/T | 127 | rs752071275 | 0.5190 | None | gnomAD-3.1.2 | 6.58E-06 | |
16309 | 48 | N/T | 127 | rs752071275 | 0.5190 | None | gnomAD-4.0.0 | 3.72129E-06 | |
16310 | 49 | V/I | 130 | rs1401698279 | 0.4593 | None | gnomAD-2.1.1 | 4.04E-06 | |
16310 | 49 | V/I | 130 | rs1401698279 | 0.4593 | None | gnomAD-4.0.0 | 1.59407E-06 | |
16311 | 50 | P/H | 131 | rs763372996 | 0.6245 | None | gnomAD-2.1.1 | 1.61E-05 | |
16311 | 50 | P/H | 131 | rs763372996 | 0.6245 | None | gnomAD-3.1.2 | 3.29E-05 | |
16311 | 50 | P/H | 131 | rs763372996 | 0.6245 | None | gnomAD-4.0.0 | 1.73673E-05 | |
16311 | 50 | P/L | 131 | None | 0.6245 | None | gnomAD-4.0.0 | 6.84726E-07 | |
16311 | 50 | P/S | 131 | None | 0.6245 | None | gnomAD-4.0.0 | 1.59404E-06 | |
16312 | 51 | K/N | 134 | None | 0.7605 | None | gnomAD-4.0.0 | 2.40064E-06 | |
16313 | 52 | K/I | 135 | None | 0.6281 | None | gnomAD-4.0.0 | 1.59406E-06 | |
16314 | 53 | S/Y | 136 | rs375909143 | 0.1294 | None | gnomAD-2.1.1 | 4.04E-06 | |
16315 | 54 | T/P | 137 | rs760198616 | 0.2609 | None | gnomAD-2.1.1 | 8.07E-06 | |
16315 | 54 | T/P | 137 | rs760198616 | 0.2609 | None | gnomAD-4.0.0 | 2.05414E-06 | |
16316 | 55 | V/M | 138 | None | 0.1125 | None | gnomAD-4.0.0 | 1.20033E-06 | |
16318 | 57 | I/L | 140 | rs962564634 | 0.1148 | None | gnomAD-3.1.2 | 1.32E-05 | |
16318 | 57 | I/L | 140 | rs962564634 | 0.1148 | None | gnomAD-4.0.0 | 1.31709E-05 | |
16318 | 57 | I/T | 140 | rs72677243 | 0.1148 | None | gnomAD-2.1.1 | 1.17164E-03 | |
16318 | 57 | I/T | 140 | rs72677243 | 0.1148 | None | gnomAD-3.1.2 | 9.55242E-04 | |
16318 | 57 | I/T | 140 | rs72677243 | 0.1148 | None | 1000 genomes | 3.99361E-04 | |
16318 | 57 | I/T | 140 | rs72677243 | 0.1148 | None | gnomAD-4.0.0 | 1.02707E-03 | |
16318 | 57 | I/V | 140 | rs962564634 | 0.1148 | None | gnomAD-2.1.1 | 4.04E-06 | |
16318 | 57 | I/V | 140 | rs962564634 | 0.1148 | None | gnomAD-4.0.0 | 3.42363E-06 | |
16319 | 58 | V/A | 141 | rs374837771 | 0.4217 | None | gnomAD-2.1.1 | 1.43E-05 | |
16319 | 58 | V/A | 141 | rs374837771 | 0.4217 | None | gnomAD-3.1.2 | 2.63E-05 | |
16319 | 58 | V/A | 141 | rs374837771 | 0.4217 | None | gnomAD-4.0.0 | 1.9227E-05 | |
16323 | 62 | R/I | 146 | None | 0.1998 | None | gnomAD-4.0.0 | 1.59405E-06 | |
16324 | 63 | S/I | 148 | rs878948684 | 0.4869 | None | gnomAD-2.1.1 | 4.04E-06 | |
16324 | 63 | S/I | 148 | rs878948684 | 0.4869 | None | gnomAD-4.0.0 | 7.53197E-06 | |
16324 | 63 | S/R | 148 | rs774497699 | 0.4869 | None | gnomAD-2.1.1 | 4.04E-06 | |
16324 | 63 | S/R | 148 | rs774497699 | 0.4869 | None | gnomAD-4.0.0 | 3.18801E-06 | |
16326 | 65 | T/A | 151 | rs1247538583 | 0.2742 | None | gnomAD-2.1.1 | 8.07E-06 | |
16326 | 65 | T/A | 151 | rs1247538583 | 0.2742 | None | gnomAD-4.0.0 | 3.18818E-06 | |
16327 | 66 | G/S | 152 | None | 0.2446 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16328 | 67 | T/I | 153 | rs770839243 | 0.4114 | None | gnomAD-2.1.1 | 1.61E-05 | |
16328 | 67 | T/I | 153 | rs770839243 | 0.4114 | None | gnomAD-4.0.0 | 6.16275E-06 | |
16329 | 68 | Y/C | 154 | rs1456507512 | 0.1471 | None | gnomAD-2.1.1 | 4.04E-06 | |
16329 | 68 | Y/C | 154 | rs1456507512 | 0.1471 | None | gnomAD-4.0.0 | 2.73902E-06 | |
16331 | 70 | I/T | 156 | None | 0.1387 | None | gnomAD-4.0.0 | 2.73913E-06 | |
16332 | 71 | E/K | 157 | rs879092258 | 0.3863 | None | gnomAD-3.1.2 | 6.58E-06 | |
16332 | 71 | E/K | 157 | rs879092258 | 0.3863 | None | gnomAD-4.0.0 | 2.56733E-06 | |
16333 | 72 | A/S | 158 | rs756253347 | 0.1750 | None | gnomAD-2.1.1 | 4.04E-06 | |
16333 | 72 | A/S | 158 | rs756253347 | 0.1750 | None | gnomAD-4.0.0 | 1.59482E-06 | |
16333 | 72 | A/V | 158 | None | 0.1750 | None | gnomAD-4.0.0 | 1.3697E-06 | |
16334 | 73 | V/A | 159 | None | 0.3392 | None | gnomAD-4.0.0 | 1.59507E-06 | |
16334 | 73 | V/M | 159 | rs541384076 | 0.3392 | None | gnomAD-2.1.1 | 7.68E-05 | |
16334 | 73 | V/M | 159 | rs541384076 | 0.3392 | None | gnomAD-3.1.2 | 1.32E-05 | |
16334 | 73 | V/M | 159 | rs541384076 | 0.3392 | None | 1000 genomes | 5.99042E-04 | |
16334 | 73 | V/M | 159 | rs541384076 | 0.3392 | None | gnomAD-4.0.0 | 2.66757E-05 | |
16336 | 75 | V/A | 162 | None | 0.8062 | None | gnomAD-4.0.0 | 2.40064E-06 | |
16336 | 75 | V/L | 162 | None | 0.8062 | None | gnomAD-4.0.0 | 1.5965E-06 | |
16337 | 76 | C/S | 163 | None | 0.6834 | None | gnomAD-4.0.0 | 8.9083E-06 | |
16337 | 76 | C/W | 163 | rs575621631 | 0.6834 | None | gnomAD-2.1.1 | 4.05E-05 | |
16337 | 76 | C/W | 163 | rs575621631 | 0.6834 | None | gnomAD-3.1.2 | 1.32E-05 | |
16337 | 76 | C/W | 163 | rs575621631 | 0.6834 | None | 1000 genomes | 1.99681E-04 | |
16337 | 76 | C/W | 163 | rs575621631 | 0.6834 | None | gnomAD-4.0.0 | 2.6688E-05 | |
16337 | 76 | C/Y | 163 | rs1335648118 | 0.6834 | None | gnomAD-2.1.1 | 3.19E-05 | |
16337 | 76 | C/Y | 163 | rs1335648118 | 0.6834 | None | gnomAD-4.0.0 | 1.59713E-06 | |
16338 | 77 | G/S | 164 | rs752053096 | 0.3835 | None | gnomAD-3.1.2 | 6.58E-06 | |
16338 | 77 | G/S | 164 | rs752053096 | 0.3835 | None | gnomAD-4.0.0 | 6.58467E-06 | |
16339 | 78 | R/Q | 165 | rs558487304 | 0.8277 | None | gnomAD-2.1.1 | 2.03E-05 | |
16339 | 78 | R/Q | 165 | rs558487304 | 0.8277 | None | gnomAD-3.1.2 | 6.59E-06 | |
16339 | 78 | R/Q | 165 | rs558487304 | 0.8277 | None | gnomAD-4.0.0 | 1.6769E-05 | |
16339 | 78 | R/W | 165 | rs201793958 | 0.8277 | None | gnomAD-2.1.1 | 1.00704E-04 | |
16339 | 78 | R/W | 165 | rs201793958 | 0.8277 | None | gnomAD-3.1.2 | 2.96638E-04 | |
16339 | 78 | R/W | 165 | rs201793958 | 0.8277 | None | gnomAD-4.0.0 | 5.34041E-05 | |
16340 | 79 | A/T | 166 | rs1465666542 | 0.4947 | None | gnomAD-2.1.1 | 4.06E-06 | |
16341 | 80 | T/S | 168 | None | 0.6982 | None | gnomAD-4.0.0 | 1.60165E-06 | |
16342 | 81 | A/S | 169 | rs1429247714 | 0.4421 | None | gnomAD-2.1.1 | 1.63E-05 | |
16342 | 81 | A/S | 169 | rs1429247714 | 0.4421 | None | gnomAD-4.0.0 | 3.43153E-06 | |
16343 | 82 | V/M | 171 | rs2056942530 | 0.5344 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16344 | 83 | V/A | 172 | None | 0.2085 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16345 | 84 | E/K | 173 | None | 0.5715 | None | gnomAD-4.0.0 | 1.61337E-06 | |
16346 | 85 | V/A | 174 | None | 0.1318 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16348 | 87 | V/I | 177 | rs562289342 | 0.0815 | None | gnomAD-2.1.1 | 2.08E-05 | |
16348 | 87 | V/I | 177 | rs562289342 | 0.0815 | None | gnomAD-3.1.2 | 6.59E-06 | |
16348 | 87 | V/I | 177 | rs562289342 | 0.0815 | None | 1000 genomes | 1.99681E-04 | |
16348 | 87 | V/I | 177 | rs562289342 | 0.0815 | None | gnomAD-4.0.0 | 6.24557E-06 |