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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
33204 | 2 | E/D | 9 | None | 0.7069 | None | gnomAD-4.0.0 | 3.60097E-06 | |
33204 | 2 | E/K | 9 | rs1490008675 | 0.7069 | None | gnomAD-2.1.1 | 8.04E-06 | |
33204 | 2 | E/K | 9 | rs1490008675 | 0.7069 | None | gnomAD-4.0.0 | 2.05285E-06 | |
33204 | 2 | E/V | 9 | None | 0.7069 | None | gnomAD-4.0.0 | 1.59162E-06 | |
33206 | 4 | Y/D | 13 | None | 0.2501 | None | gnomAD-4.0.0 | 3.18333E-06 | |
33206 | 4 | Y/H | 13 | None | 0.2501 | None | gnomAD-4.0.0 | 1.59167E-06 | |
33208 | 6 | G/R | 16 | None | 0.2130 | None | gnomAD-4.0.0 | 1.20032E-06 | |
33209 | 7 | A/D | 18 | None | 0.2891 | None | gnomAD-4.0.0 | 1.20032E-06 | |
33209 | 7 | A/P | 18 | rs1244887390 | 0.2891 | None | gnomAD-2.1.1 | 4.02E-06 | |
33209 | 7 | A/P | 18 | rs1244887390 | 0.2891 | None | gnomAD-4.0.0 | 3.18307E-06 | |
33210 | 8 | V/G | 23 | rs1482941539 | 0.2062 | None | gnomAD-2.1.1 | 3.19E-05 | |
33210 | 8 | V/M | 23 | None | 0.2062 | None | gnomAD-4.0.0 | 1.20032E-06 | |
33211 | 9 | G/D | 24 | None | 0.2782 | None | gnomAD-4.0.0 | 1.59146E-06 | |
33211 | 9 | G/R | 24 | None | 0.2782 | None | gnomAD-4.0.0 | 1.36849E-06 | |
33211 | 9 | G/S | 24 | rs1553504771 | 0.2782 | None | gnomAD-4.0.0 | 3.42122E-06 | |
33212 | 10 | S/C | 25 | None | 0.2729 | None | gnomAD-4.0.0 | 1.20032E-06 | |
33212 | 10 | S/P | 25 | rs1692192706 | 0.2729 | None | gnomAD-3.1.2 | 6.57E-06 | |
33212 | 10 | S/P | 25 | rs1692192706 | 0.2729 | None | gnomAD-4.0.0 | 6.57065E-06 | |
33213 | 11 | T/I | 26 | None | 0.3235 | None | gnomAD-4.0.0 | 1.59133E-06 | |
33215 | 13 | R/P | 29 | rs373182320 | 0.3919 | None | gnomAD-2.1.1 | 4.02E-06 | |
33215 | 13 | R/P | 29 | rs373182320 | 0.3919 | None | gnomAD-4.0.0 | 2.73691E-06 | |
33215 | 13 | R/Q | 29 | rs373182320 | 0.3919 | None | gnomAD-2.1.1 | 2.14E-05 | |
33215 | 13 | R/Q | 29 | rs373182320 | 0.3919 | None | gnomAD-3.1.2 | 6.57E-06 | |
33215 | 13 | R/Q | 29 | rs373182320 | 0.3919 | None | gnomAD-4.0.0 | 1.36339E-05 | |
33215 | 13 | R/W | 29 | rs377598016 | 0.3919 | None | gnomAD-2.1.1 | 5.22E-05 | |
33215 | 13 | R/W | 29 | rs377598016 | 0.3919 | None | gnomAD-3.1.2 | 3.29E-05 | |
33215 | 13 | R/W | 29 | rs377598016 | 0.3919 | None | gnomAD-4.0.0 | 5.76281E-05 | |
33218 | 16 | V/I | 33 | rs1692185299 | 0.1346 | None | gnomAD-4.0.0 | 2.66855E-05 | |
33219 | 17 | M/I | 34 | None | 0.1393 | None | gnomAD-4.0.0 | 1.36849E-06 | |
33219 | 17 | M/R | 34 | None | 0.1393 | None | gnomAD-4.0.0 | 6.84242E-07 | |
33219 | 17 | M/T | 34 | rs1692183695 | 0.1393 | None | gnomAD-3.1.2 | 6.57E-06 | |
33219 | 17 | M/T | 34 | rs1692183695 | 0.1393 | None | gnomAD-4.0.0 | 1.73516E-05 | |
33220 | 18 | Y/C | 35 | None | 0.0800 | None | gnomAD-4.0.0 | 1.20032E-06 | |
33220 | 18 | Y/H | 35 | rs776277442 | 0.0800 | None | gnomAD-4.0.0 | 1.11401E-05 | |
33221 | 19 | I/L | 38 | rs938263270 | 0.1599 | None | gnomAD-4.0.0 | 6.84242E-07 | |
33221 | 19 | I/T | 38 | rs1306714947 | 0.1599 | None | gnomAD-4.0.0 | 4.78971E-06 | |
33221 | 19 | I/V | 38 | rs938263270 | 0.1599 | None | gnomAD-2.1.1 | 3.18E-05 | |
33221 | 19 | I/V | 38 | rs938263270 | 0.1599 | None | gnomAD-3.1.2 | 2.63E-05 | |
33221 | 19 | I/V | 38 | rs938263270 | 0.1599 | None | gnomAD-4.0.0 | 3.71827E-06 | |
33222 | 20 | G/S | 40 | rs926931010 | 0.0847 | None | gnomAD-2.1.1 | 3.19E-05 | |
33222 | 20 | G/S | 40 | rs926931010 | 0.0847 | None | gnomAD-3.1.2 | 3.29E-05 | |
33222 | 20 | G/S | 40 | rs926931010 | 0.0847 | None | gnomAD-4.0.0 | 6.09004E-06 | |
33223 | 21 | R/C | 41 | rs1367376217 | 0.0793 | None | gnomAD-2.1.1 | 1.07E-05 | |
33223 | 21 | R/C | 41 | rs1367376217 | 0.0793 | None | gnomAD-3.1.2 | 6.58E-06 | |
33223 | 21 | R/C | 41 | rs1367376217 | 0.0793 | None | gnomAD-4.0.0 | 2.47908E-06 | |
33223 | 21 | R/H | 41 | rs369081242 | 0.0793 | None | gnomAD-2.1.1 | 8.04E-05 | |
33223 | 21 | R/H | 41 | rs369081242 | 0.0793 | None | gnomAD-3.1.2 | 7.89E-05 | |
33223 | 21 | R/H | 41 | rs369081242 | 0.0793 | None | gnomAD-4.0.0 | 4.39996E-05 | |
33224 | 22 | P/S | 42 | rs879139495 | 0.1938 | None | gnomAD-2.1.1 | 7.14E-06 | |
33224 | 22 | P/S | 42 | rs879139495 | 0.1938 | None | gnomAD-3.1.2 | 6.57E-06 | |
33224 | 22 | P/S | 42 | rs879139495 | 0.1938 | None | gnomAD-4.0.0 | 6.4062E-06 | |
33225 | 23 | V/I | 43 | None | 0.2738 | None | gnomAD-4.0.0 | 1.36851E-06 | |
33226 | 24 | P/S | 44 | None | 0.1124 | None | gnomAD-4.0.0 | 1.59142E-06 | |
33227 | 25 | A/D | 45 | rs1430566252 | 0.1651 | None | gnomAD-2.1.1 | 3.19E-05 | |
33227 | 25 | A/D | 45 | rs1430566252 | 0.1651 | None | gnomAD-3.1.2 | 6.57E-06 | |
33227 | 25 | A/D | 45 | rs1430566252 | 0.1651 | None | gnomAD-4.0.0 | 6.57462E-06 | |
33227 | 25 | A/V | 45 | rs1430566252 | 0.1651 | None | gnomAD-2.1.1 | 8.04E-06 | |
33227 | 25 | A/V | 45 | rs1430566252 | 0.1651 | None | gnomAD-4.0.0 | 3.42123E-06 | |
33228 | 26 | M/I | 46 | None | 0.0967 | None | gnomAD-4.0.0 | 2.40064E-06 | |
33228 | 26 | M/T | 46 | None | 0.0967 | None | gnomAD-4.0.0 | 1.5914E-06 | |
33228 | 26 | M/V | 46 | None | 0.0967 | None | gnomAD-4.0.0 | 1.59144E-06 | |
33231 | 29 | F/L | 49 | None | 0.1100 | None | gnomAD-4.0.0 | 1.59138E-06 | |
33232 | 30 | H/Q | 50 | rs745799786 | 0.2480 | None | gnomAD-2.1.1 | 4.02E-06 | |
33232 | 30 | H/Q | 50 | rs745799786 | 0.2480 | None | gnomAD-4.0.0 | 2.05268E-06 | |
33232 | 30 | H/R | 50 | rs772035843 | 0.2480 | None | gnomAD-2.1.1 | 1.21E-05 | |
33232 | 30 | H/R | 50 | rs772035843 | 0.2480 | None | gnomAD-3.1.2 | 1.97E-05 | |
33232 | 30 | H/R | 50 | rs772035843 | 0.2480 | None | gnomAD-4.0.0 | 8.96822E-06 | |
33233 | 31 | G/D | 51 | rs1271698749 | 0.3892 | None | gnomAD-2.1.1 | 4.02E-06 | |
33233 | 31 | G/D | 51 | rs1271698749 | 0.3892 | None | gnomAD-4.0.0 | 1.59138E-06 | |
33233 | 31 | G/R | 51 | rs1479703303 | 0.3892 | None | gnomAD-2.1.1 | 4.02E-06 | |
33233 | 31 | G/R | 51 | rs1479703303 | 0.3892 | None | gnomAD-4.0.0 | 6.84235E-07 | |
33233 | 31 | G/S | 51 | rs1479703303 | 0.3892 | None | gnomAD-4.0.0 | 2.73694E-06 | |
33234 | 32 | Q/R | 52 | None | 0.3118 | None | gnomAD-4.0.0 | 1.20032E-06 | |
33235 | 33 | K/E | 55 | None | 0.4628 | None | gnomAD-4.0.0 | 1.5914E-06 | |
33235 | 33 | K/Q | 55 | rs774189985 | 0.4628 | None | gnomAD-2.1.1 | 4.02E-06 | |
33241 | 39 | E/K | 109 | rs1318192796 | 0.5506 | None | gnomAD-2.1.1 | 4.02E-06 | |
33241 | 39 | E/K | 109 | rs1318192796 | 0.5506 | None | gnomAD-4.0.0 | 3.18324E-06 | |
33243 | 41 | I/F | 121 | None | 0.1660 | None | gnomAD-4.0.0 | 1.59163E-06 | |
33244 | 42 | T/I | 122 | rs1282327572 | 0.3397 | None | gnomAD-2.1.1 | 4.03E-06 | |
33244 | 42 | T/N | 122 | None | 0.3397 | None | gnomAD-4.0.0 | 1.59177E-06 | |
33245 | 43 | I/T | 123 | rs749517808 | 0.1350 | None | gnomAD-2.1.1 | 8.05E-06 | |
33245 | 43 | I/T | 123 | rs749517808 | 0.1350 | None | gnomAD-3.1.2 | 2.63E-05 | |
33245 | 43 | I/T | 123 | rs749517808 | 0.1350 | None | gnomAD-4.0.0 | 1.05362E-05 | |
33245 | 43 | I/V | 123 | rs770654036 | 0.1350 | None | gnomAD-2.1.1 | 7.15E-06 | |
33245 | 43 | I/V | 123 | rs770654036 | 0.1350 | None | gnomAD-3.1.2 | 6.57E-06 | |
33245 | 43 | I/V | 123 | rs770654036 | 0.1350 | None | gnomAD-4.0.0 | 3.71854E-06 | |
33246 | 44 | E/A | 125 | rs1692148720 | 0.4699 | None | gnomAD-3.1.2 | 6.57E-06 | |
33246 | 44 | E/A | 125 | rs1692148720 | 0.4699 | None | gnomAD-4.0.0 | 6.57091E-06 | |
33246 | 44 | E/D | 125 | rs778016048 | 0.4699 | None | gnomAD-2.1.1 | 4.03E-06 | |
33246 | 44 | E/D | 125 | rs778016048 | 0.4699 | None | gnomAD-4.0.0 | 1.59186E-06 | |
33248 | 46 | T/S | 130 | rs1455373620 | 0.1532 | None | gnomAD-3.1.2 | 6.57E-06 | |
33248 | 46 | T/S | 130 | rs1455373620 | 0.1532 | None | gnomAD-4.0.0 | 6.57246E-06 | |
33249 | 47 | E/K | 131 | None | 0.2721 | None | gnomAD-4.0.0 | 1.36878E-06 | |
33250 | 48 | H/R | 134 | rs1395830573 | 0.2590 | None | gnomAD-2.1.1 | 4.03E-06 | |
33250 | 48 | H/R | 134 | rs1395830573 | 0.2590 | None | gnomAD-4.0.0 | 3.18457E-06 | |
33251 | 49 | Y/C | 135 | rs377456237 | 0.2274 | None | gnomAD-2.1.1 | 7.16E-06 | |
33251 | 49 | Y/C | 135 | rs377456237 | 0.2274 | None | gnomAD-3.1.2 | 2.63E-05 | |
33251 | 49 | Y/C | 135 | rs377456237 | 0.2274 | None | gnomAD-4.0.0 | 4.33918E-06 | |
33252 | 50 | T/I | 136 | None | 0.1139 | None | gnomAD-4.0.0 | 1.36887E-06 | |
33253 | 51 | H/P | 137 | None | 0.1909 | None | gnomAD-4.0.0 | 1.36901E-06 | |
33253 | 51 | H/R | 137 | None | 0.1909 | None | gnomAD-4.0.0 | 1.36899E-06 | |
33255 | 53 | V/I | 139 | rs1692136701 | 0.1437 | None | gnomAD-4.0.0 | 7.96536E-06 | |
33256 | 54 | M/I | 140 | rs752102823 | 0.1076 | None | gnomAD-2.1.1 | 2.02E-05 | |
33256 | 54 | M/I | 140 | rs752102823 | 0.1076 | None | gnomAD-4.0.0 | 7.96686E-06 | |
33256 | 54 | M/L | 140 | rs755612464 | 0.1076 | None | gnomAD-2.1.1 | 4.05E-06 | |
33256 | 54 | M/L | 140 | rs755612464 | 0.1076 | None | gnomAD-3.1.2 | 6.57E-06 | |
33256 | 54 | M/L | 140 | rs755612464 | 0.1076 | None | gnomAD-4.0.0 | 6.57004E-06 | |
33257 | 55 | K/T | 141 | rs766867347 | 0.3979 | None | gnomAD-2.1.1 | 3.59E-05 | |
33257 | 55 | K/T | 141 | rs766867347 | 0.3979 | None | gnomAD-3.1.2 | 6.57E-06 | |
33257 | 55 | K/T | 141 | rs766867347 | 0.3979 | None | gnomAD-4.0.0 | 6.81976E-06 | |
33258 | 56 | N/H | 143 | None | 0.4590 | None | gnomAD-4.0.0 | 2.40065E-06 | |
33261 | 59 | R/C | 146 | rs1064797274 | 0.6546 | None | gnomAD-2.1.1 | 1.62E-05 | |
33261 | 59 | R/C | 146 | rs1064797274 | 0.6546 | None | gnomAD-3.1.2 | 1.32E-05 | |
33261 | 59 | R/C | 146 | rs1064797274 | 0.6546 | None | gnomAD-4.0.0 | 8.06246E-06 | |
33261 | 59 | R/H | 146 | rs373473754 | 0.6546 | None | gnomAD-2.1.1 | 1.08E-05 | |
33261 | 59 | R/H | 146 | rs373473754 | 0.6546 | None | gnomAD-3.1.2 | 1.32E-05 | |
33261 | 59 | R/H | 146 | rs373473754 | 0.6546 | None | gnomAD-4.0.0 | 6.2022E-06 | |
33263 | 61 | T/P | 148 | None | 0.3574 | None | gnomAD-4.0.0 | 4.78444E-06 | |
33263 | 61 | T/S | 148 | rs369648529 | 0.3574 | None | gnomAD-2.1.1 | 1.22E-05 | |
33263 | 61 | T/S | 148 | rs369648529 | 0.3574 | None | gnomAD-3.1.2 | 2.63E-05 | |
33263 | 61 | T/S | 148 | rs369648529 | 0.3574 | None | 1000 genomes | 1.99681E-04 | |
33263 | 61 | T/S | 148 | rs369648529 | 0.3574 | None | gnomAD-4.0.0 | 6.41634E-06 | |
33264 | 62 | H/Q | 149 | None | 0.1837 | None | gnomAD-4.0.0 | 1.59875E-06 | |
33265 | 63 | A/T | 151 | None | 0.1921 | None | gnomAD-4.0.0 | 6.8572E-07 | |
33266 | 64 | G/R | 152 | rs2154138225 | 0.2221 | None | gnomAD-4.0.0 | 3.20244E-06 | |
33267 | 65 | K/E | 153 | None | 0.4908 | None | gnomAD-4.0.0 | 1.60197E-06 | |
33268 | 66 | Y/C | 154 | None | 0.1116 | None | gnomAD-4.0.0 | 1.20032E-06 | |
33268 | 66 | Y/H | 154 | None | 0.1116 | None | gnomAD-4.0.0 | 1.20032E-06 | |
33269 | 67 | K/R | 155 | None | 0.1601 | None | gnomAD-4.0.0 | 1.60617E-06 | |
33271 | 69 | Q/H | 157 | rs1201464356 | 0.1518 | None | gnomAD-2.1.1 | 4.09E-06 | |
33271 | 69 | Q/H | 157 | rs1201464356 | 0.1518 | None | gnomAD-4.0.0 | 1.61262E-06 | |
33271 | 69 | Q/P | 157 | rs1262109870 | 0.1518 | None | gnomAD-2.1.1 | 4.08E-06 | |
33271 | 69 | Q/P | 157 | rs1262109870 | 0.1518 | None | gnomAD-4.0.0 | 1.61091E-06 | |
33272 | 70 | L/F | 158 | rs397517780 | 0.0860 | None | gnomAD-2.1.1 | 4.09E-06 | |
33272 | 70 | L/F | 158 | rs397517780 | 0.0860 | None | gnomAD-4.0.0 | 1.5824E-05 | |
33273 | 71 | S/I | 159 | rs774208494 | 0.1199 | None | gnomAD-3.1.2 | 6.58E-06 | |
33273 | 71 | S/I | 159 | rs774208494 | 0.1199 | None | gnomAD-4.0.0 | 1.87559E-06 | |
33274 | 72 | N/H | 161 | None | 0.0999 | None | gnomAD-4.0.0 | 6.90743E-07 | |
33274 | 72 | N/T | 161 | None | 0.0999 | None | gnomAD-4.0.0 | 1.62711E-06 | |
33274 | 72 | N/Y | 161 | None | 0.0999 | None | gnomAD-4.0.0 | 1.38149E-06 | |
33276 | 74 | F/Y | 163 | rs1159073081 | 0.3211 | None | gnomAD-2.1.1 | 3.18E-05 | |
33276 | 74 | F/Y | 163 | rs1159073081 | 0.3211 | None | gnomAD-3.1.2 | 6.57E-06 | |
33276 | 74 | F/Y | 163 | rs1159073081 | 0.3211 | None | gnomAD-4.0.0 | 8.11929E-06 | |
33277 | 75 | G/A | 164 | rs397517781 | 0.1857 | None | gnomAD-2.1.1 | 4.19E-06 | |
33277 | 75 | G/A | 164 | rs397517781 | 0.1857 | None | gnomAD-3.1.2 | 1.32E-05 | |
33277 | 75 | G/A | 164 | rs397517781 | 0.1857 | None | gnomAD-4.0.0 | 8.15334E-06 | |
33277 | 75 | G/E | 164 | rs397517781 | 0.1857 | None | gnomAD-2.1.1 | 9.12967E-04 | |
33277 | 75 | G/E | 164 | rs397517781 | 0.1857 | None | gnomAD-3.1.2 | 2.56508E-04 | |
33277 | 75 | G/E | 164 | rs397517781 | 0.1857 | None | 1000 genomes | 1.79712E-03 | |
33277 | 75 | G/E | 164 | rs397517781 | 0.1857 | None | gnomAD-4.0.0 | 4.48402E-04 | |
33278 | 76 | T/A | 165 | rs749065018 | 0.4193 | None | gnomAD-2.1.1 | 4.19E-06 | |
33278 | 76 | T/R | 165 | rs772862798 | 0.4193 | None | gnomAD-2.1.1 | 8.41E-06 | |
33278 | 76 | T/R | 165 | rs772862798 | 0.4193 | None | gnomAD-4.0.0 | 3.28861E-06 | |
33279 | 77 | V/A | 166 | rs770098799 | 0.1936 | None | gnomAD-2.1.1 | 4.25E-06 | |
33279 | 77 | V/A | 166 | rs770098799 | 0.1936 | None | gnomAD-4.0.0 | 3.30536E-06 | |
33279 | 77 | V/G | 166 | rs770098799 | 0.1936 | None | gnomAD-2.1.1 | 4.25E-06 | |
33279 | 77 | V/G | 166 | rs770098799 | 0.1936 | None | gnomAD-3.1.2 | 1.31E-05 | |
33279 | 77 | V/G | 166 | rs770098799 | 0.1936 | None | gnomAD-4.0.0 | 3.96173E-06 | |
33280 | 78 | D/E | 168 | rs375178211 | 0.3772 | None | gnomAD-2.1.1 | 4.29E-06 | |
33280 | 78 | D/E | 168 | rs375178211 | 0.3772 | None | gnomAD-3.1.2 | 6.57E-06 | |
33280 | 78 | D/E | 168 | rs375178211 | 0.3772 | None | gnomAD-4.0.0 | 6.56996E-06 | |
33280 | 78 | D/H | 168 | rs748316295 | 0.3772 | None | gnomAD-2.1.1 | 4.27E-06 | |
33280 | 78 | D/H | 168 | rs748316295 | 0.3772 | None | gnomAD-4.0.0 | 4.87148E-06 | |
33281 | 79 | A/T | 169 | None | 0.1569 | None | gnomAD-4.0.0 | 6.97564E-07 | |
33282 | 80 | I/T | 171 | rs747546215 | 0.5339 | None | gnomAD-2.1.1 | 4.6E-06 | |
33282 | 80 | I/T | 171 | rs747546215 | 0.5339 | None | gnomAD-3.1.2 | 1.31E-05 | |
33282 | 80 | I/T | 171 | rs747546215 | 0.5339 | None | gnomAD-4.0.0 | 5.44553E-06 | |
33284 | 82 | D/E | 173 | None | 0.2618 | None | gnomAD-4.0.0 | 7.10619E-07 | |
33284 | 82 | D/H | 173 | None | 0.2618 | None | gnomAD-4.0.0 | 7.10201E-07 | |
33285 | 83 | V/E | 174 | None | 0.1236 | None | gnomAD-4.0.0 | 1.76837E-06 | |
33285 | 83 | V/G | 174 | rs1173561652 | 0.1236 | None | gnomAD-2.1.1 | 4.93E-06 | |
33285 | 83 | V/G | 174 | rs1173561652 | 0.1236 | None | gnomAD-4.0.0 | 1.76837E-06 | |
33285 | 83 | V/L | 174 | None | 0.1236 | None | gnomAD-4.0.0 | 1.74938E-06 | |
33285 | 83 | V/M | 174 | None | 0.1236 | None | gnomAD-4.0.0 | 3.49877E-06 | |
33286 | 84 | E/D | 175 | rs1362585366 | 0.3863 | None | gnomAD-2.1.1 | 5.03E-06 | |
33286 | 84 | E/K | 175 | rs780655169 | 0.3863 | None | gnomAD-2.1.1 | 1.5E-05 | |
33286 | 84 | E/K | 175 | rs780655169 | 0.3863 | None | gnomAD-3.1.2 | 6.58E-06 | |
33286 | 84 | E/K | 175 | rs780655169 | 0.3863 | None | gnomAD-4.0.0 | 7.75374E-06 | |
33287 | 85 | I/M | 177 | rs758948672 | 0.1184 | None | gnomAD-2.1.1 | 1.54E-05 | |
33287 | 85 | I/M | 177 | rs758948672 | 0.1184 | None | gnomAD-4.0.0 | 5.36517E-06 |