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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
19095 | 1 | D/E | 1 | None | 0.2946 | None | gnomAD-4.0.0 | 6.84479E-07 | |
19095 | 1 | D/V | 1 | None | 0.2946 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19096 | 2 | A/V | 2 | rs1559650624 | 0.6189 | None | gnomAD-2.1.1 | 8.07E-06 | |
19096 | 2 | A/V | 2 | rs1559650624 | 0.6189 | None | gnomAD-4.0.0 | 3.1855E-06 | |
19098 | 4 | V/A | 4 | rs766691172 | 0.2107 | None | gnomAD-2.1.1 | 4.03E-06 | |
19098 | 4 | V/A | 4 | rs766691172 | 0.2107 | None | gnomAD-4.0.0 | 3.18522E-06 | |
19098 | 4 | V/I | 4 | rs727503592 | 0.2107 | None | gnomAD-2.1.1 | 1.61E-05 | |
19098 | 4 | V/I | 4 | rs727503592 | 0.2107 | None | gnomAD-4.0.0 | 8.89795E-06 | |
19099 | 5 | R/G | 8 | None | 0.6483 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19100 | 6 | D/E | 9 | rs876658069 | 0.7872 | None | gnomAD-2.1.1 | 7.16E-06 | |
19100 | 6 | D/E | 9 | rs876658069 | 0.7872 | None | gnomAD-3.1.2 | 6.57E-06 | |
19100 | 6 | D/E | 9 | rs876658069 | 0.7872 | None | gnomAD-4.0.0 | 1.73574E-05 | |
19100 | 6 | D/N | 9 | rs2154189970 | 0.7872 | None | gnomAD-3.1.2 | 6.58E-06 | |
19100 | 6 | D/N | 9 | rs2154189970 | 0.7872 | None | gnomAD-4.0.0 | 5.47564E-06 | |
19101 | 7 | R/G | 11 | rs763313986 | 0.4653 | None | gnomAD-2.1.1 | 4.03E-06 | |
19101 | 7 | R/G | 11 | rs763313986 | 0.4653 | None | gnomAD-4.0.0 | 1.59258E-06 | |
19101 | 7 | R/S | 11 | None | 0.4653 | None | gnomAD-4.0.0 | 1.59256E-06 | |
19102 | 8 | I/T | 13 | rs878854319 | 0.2289 | None | gnomAD-4.0.0 | 1.59256E-06 | |
19103 | 9 | V/A | 14 | None | 0.4579 | None | gnomAD-4.0.0 | 4.80129E-06 | |
19103 | 9 | V/I | 14 | None | 0.4579 | None | gnomAD-4.0.0 | 4.10669E-06 | |
19104 | 10 | V/A | 16 | rs776210519 | 0.1823 | None | gnomAD-2.1.1 | 6.38E-05 | |
19104 | 10 | V/A | 16 | rs776210519 | 0.1823 | None | gnomAD-3.1.2 | 2.63E-05 | |
19104 | 10 | V/A | 16 | rs776210519 | 0.1823 | None | gnomAD-4.0.0 | 6.41024E-06 | |
19104 | 10 | V/D | 16 | rs776210519 | 0.1823 | None | gnomAD-2.1.1 | 4.03E-06 | |
19104 | 10 | V/D | 16 | rs776210519 | 0.1823 | None | gnomAD-4.0.0 | 1.59257E-06 | |
19105 | 11 | H/L | 18 | rs1450682516 | 0.6458 | None | gnomAD-3.1.2 | 6.58E-06 | |
19105 | 11 | H/L | 18 | rs1450682516 | 0.6458 | None | gnomAD-4.0.0 | 5.57924E-06 | |
19105 | 11 | H/R | 18 | None | 0.6458 | None | gnomAD-4.0.0 | 1.36889E-06 | |
19105 | 11 | H/Y | 18 | rs2052113416 | 0.6458 | None | gnomAD-4.0.0 | 3.18518E-06 | |
19106 | 12 | A/T | 23 | rs754573037 | 0.3078 | None | gnomAD-2.1.1 | 1.61E-05 | |
19106 | 12 | A/T | 23 | rs754573037 | 0.3078 | None | gnomAD-4.0.0 | 1.27402E-05 | |
19107 | 13 | G/E | 24 | None | 0.3421 | None | gnomAD-4.0.0 | 1.59254E-06 | |
19108 | 14 | G/E | 25 | rs774910035 | 0.2127 | None | gnomAD-2.1.1 | 4.03E-06 | |
19108 | 14 | G/E | 25 | rs774910035 | 0.2127 | None | gnomAD-4.0.0 | 2.53246E-05 | |
19109 | 15 | V/A | 26 | None | 0.4130 | None | gnomAD-4.0.0 | 1.59251E-06 | |
19109 | 15 | V/M | 26 | rs945083650 | 0.4130 | None | gnomAD-4.0.0 | 9.5822E-06 | |
19111 | 17 | R/P | 29 | rs375808207 | 0.3924 | None | gnomAD-2.1.1 | 4.03E-06 | |
19111 | 17 | R/P | 29 | rs375808207 | 0.3924 | None | gnomAD-4.0.0 | 6.84436E-07 | |
19111 | 17 | R/Q | 29 | rs375808207 | 0.3924 | None | gnomAD-2.1.1 | 1.07E-05 | |
19111 | 17 | R/Q | 29 | rs375808207 | 0.3924 | None | gnomAD-3.1.2 | 2.63E-05 | |
19111 | 17 | R/Q | 29 | rs375808207 | 0.3924 | None | gnomAD-4.0.0 | 1.05391E-05 | |
19112 | 18 | I/T | 30 | None | 0.1124 | None | gnomAD-4.0.0 | 2.40065E-06 | |
19113 | 19 | I/T | 31 | None | 0.3204 | None | gnomAD-4.0.0 | 1.59239E-06 | |
19113 | 19 | I/V | 31 | rs2052104416 | 0.3204 | None | gnomAD-3.1.2 | 6.58E-06 | |
19113 | 19 | I/V | 31 | rs2052104416 | 0.3204 | None | gnomAD-4.0.0 | 2.56395E-06 | |
19114 | 20 | A/T | 33 | rs2052103828 | 0.1891 | None | gnomAD-4.0.0 | 2.40065E-06 | |
19115 | 21 | Y/C | 34 | rs1479994671 | 0.6255 | None | gnomAD-2.1.1 | 4.03E-06 | |
19115 | 21 | Y/C | 34 | rs1479994671 | 0.6255 | None | gnomAD-4.0.0 | 6.36951E-06 | |
19115 | 21 | Y/H | 34 | None | 0.6255 | None | gnomAD-4.0.0 | 3.42207E-06 | |
19116 | 22 | V/M | 35 | rs2052100792 | 0.3303 | None | gnomAD-3.1.2 | 6.58E-06 | |
19116 | 22 | V/M | 35 | rs2052100792 | 0.3303 | None | gnomAD-4.0.0 | 6.57765E-06 | |
19118 | 24 | G/R | 40 | rs1201313907 | 0.3443 | None | gnomAD-2.1.1 | 4.03E-06 | |
19118 | 24 | G/R | 40 | rs1201313907 | 0.3443 | None | gnomAD-4.0.0 | 1.59238E-06 | |
19119 | 25 | K/M | 41 | rs1576219870 | 0.9667 | None | gnomAD-4.0.0 | 1.59232E-06 | |
19120 | 26 | P/L | 42 | rs936369232 | 0.4089 | None | gnomAD-2.1.1 | 4.03E-06 | |
19120 | 26 | P/L | 42 | rs936369232 | 0.4089 | None | gnomAD-4.0.0 | 1.3688E-06 | |
19120 | 26 | P/R | 42 | None | 0.4089 | None | gnomAD-4.0.0 | 4.10639E-06 | |
19121 | 27 | P/L | 43 | rs779397487 | 0.6920 | None | gnomAD-3.1.2 | 6.58E-06 | |
19121 | 27 | P/L | 43 | rs779397487 | 0.6920 | None | gnomAD-4.0.0 | 6.57739E-06 | |
19123 | 29 | T/A | 45 | rs587782985 | 0.6448 | None | gnomAD-2.1.1 | 3.63E-05 | |
19123 | 29 | T/A | 45 | rs587782985 | 0.6448 | None | gnomAD-3.1.2 | 1.32E-05 | |
19123 | 29 | T/A | 45 | rs587782985 | 0.6448 | None | gnomAD-4.0.0 | 1.92162E-05 | |
19123 | 29 | T/I | 45 | None | 0.6448 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19124 | 30 | V/A | 46 | None | 0.3191 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19124 | 30 | V/I | 46 | rs142841000 | 0.3191 | None | gnomAD-2.1.1 | 1.71905E-04 | |
19124 | 30 | V/I | 46 | rs142841000 | 0.3191 | None | gnomAD-3.1.2 | 4.67222E-04 | |
19124 | 30 | V/I | 46 | rs142841000 | 0.3191 | None | 1000 genomes | 1.99681E-04 | |
19124 | 30 | V/I | 46 | rs142841000 | 0.3191 | None | gnomAD-4.0.0 | 7.93434E-05 | |
19126 | 32 | W/G | 48 | rs201912036 | 0.1885 | None | gnomAD-2.1.1 | 8.07E-06 | |
19126 | 32 | W/G | 48 | rs201912036 | 0.1885 | None | gnomAD-4.0.0 | 2.05315E-06 | |
19127 | 33 | N/S | 49 | None | 0.3692 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19128 | 34 | M/L | 50 | rs138367112 | 0.1509 | None | gnomAD-3.1.2 | 6.58E-06 | |
19128 | 34 | M/L | 50 | rs138367112 | 0.1509 | None | gnomAD-4.0.0 | 1.85959E-06 | |
19128 | 34 | M/V | 50 | rs138367112 | 0.1509 | None | gnomAD-2.1.1 | 3.58E-05 | |
19128 | 34 | M/V | 50 | rs138367112 | 0.1509 | None | gnomAD-3.1.2 | 1.05201E-04 | |
19128 | 34 | M/V | 50 | rs138367112 | 0.1509 | None | 1000 genomes | 3.99361E-04 | |
19128 | 34 | M/V | 50 | rs138367112 | 0.1509 | None | gnomAD-4.0.0 | 2.35531E-05 | |
19129 | 35 | N/K | 51 | rs375305621 | 0.4394 | None | gnomAD-2.1.1 | 1.61E-05 | |
19129 | 35 | N/K | 51 | rs375305621 | 0.4394 | None | gnomAD-3.1.2 | 1.32E-05 | |
19129 | 35 | N/K | 51 | rs375305621 | 0.4394 | None | gnomAD-4.0.0 | 1.17774E-05 | |
19131 | 37 | R/K | 55 | None | 0.7492 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19132 | 38 | T/A | 56 | None | 0.8622 | None | gnomAD-4.0.0 | 1.59218E-06 | |
19132 | 38 | T/S | 56 | rs1245250461 | 0.8622 | None | gnomAD-4.0.0 | 2.05312E-06 | |
19133 | 39 | L/F | 58 | rs1576219060 | 0.2498 | None | gnomAD-4.0.0 | 3.18431E-06 | |
19134 | 40 | P/H | 69 | None | 0.2320 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19134 | 40 | P/S | 69 | rs1327049229 | 0.2320 | None | gnomAD-2.1.1 | 4.03E-06 | |
19134 | 40 | P/S | 69 | rs1327049229 | 0.2320 | None | gnomAD-4.0.0 | 3.18434E-06 | |
19135 | 41 | Q/E | 70 | None | 0.9160 | None | gnomAD-4.0.0 | 1.59213E-06 | |
19135 | 41 | Q/L | 70 | None | 0.9160 | None | gnomAD-4.0.0 | 1.36875E-06 | |
19136 | 42 | E/D | 73 | rs553505206 | 0.4021 | None | gnomAD-3.1.2 | 6.58E-06 | |
19136 | 42 | E/D | 73 | rs553505206 | 0.4021 | None | 1000 genomes | 1.99681E-04 | |
19136 | 42 | E/D | 73 | rs553505206 | 0.4021 | None | gnomAD-4.0.0 | 3.8448E-06 | |
19136 | 42 | E/G | 73 | None | 0.4021 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19139 | 45 | I/L | 123 | rs397517629 | 0.2847 | None | gnomAD-3.1.2 | 6.58E-06 | |
19139 | 45 | I/L | 123 | rs397517629 | 0.2847 | None | gnomAD-4.0.0 | 6.57635E-06 | |
19139 | 45 | I/T | 123 | rs727503591 | 0.2847 | None | gnomAD-2.1.1 | 1.07E-05 | |
19139 | 45 | I/T | 123 | rs727503591 | 0.2847 | None | gnomAD-3.1.2 | 1.97E-05 | |
19139 | 45 | I/T | 123 | rs727503591 | 0.2847 | None | gnomAD-4.0.0 | 3.59531E-05 | |
19139 | 45 | I/V | 123 | None | 0.2847 | None | gnomAD-4.0.0 | 3.60097E-06 | |
19142 | 48 | T/A | 130 | None | 0.4404 | None | gnomAD-4.0.0 | 1.59268E-06 | |
19142 | 48 | T/I | 130 | rs1576218735 | 0.4404 | None | gnomAD-3.1.2 | 6.58E-06 | |
19142 | 48 | T/I | 130 | rs1576218735 | 0.4404 | None | gnomAD-4.0.0 | 2.03011E-06 | |
19142 | 48 | T/P | 130 | rs760195565 | 0.4404 | None | gnomAD-4.0.0 | 6.37075E-06 | |
19143 | 49 | A/P | 131 | None | 0.7601 | None | gnomAD-4.0.0 | 1.59228E-06 | |
19143 | 49 | A/V | 131 | rs540167353 | 0.7601 | None | gnomAD-3.1.2 | 6.58E-06 | |
19143 | 49 | A/V | 131 | rs540167353 | 0.7601 | None | 1000 genomes | 1.99681E-04 | |
19143 | 49 | A/V | 131 | rs540167353 | 0.7601 | None | gnomAD-4.0.0 | 6.57289E-06 | |
19145 | 51 | S/R | 135 | rs775238770 | 0.1505 | None | gnomAD-2.1.1 | 8.06E-06 | |
19145 | 51 | S/R | 135 | rs775238770 | 0.1505 | None | gnomAD-4.0.0 | 2.05323E-06 | |
19145 | 51 | S/T | 135 | rs2154189870 | 0.1505 | None | gnomAD-4.0.0 | 3.18474E-06 | |
19146 | 52 | S/L | 136 | rs1427077002 | 0.1460 | None | gnomAD-2.1.1 | 4.03E-06 | |
19146 | 52 | S/L | 136 | rs1427077002 | 0.1460 | None | gnomAD-4.0.0 | 4.7771E-06 | |
19147 | 53 | S/F | 137 | rs1178386765 | 0.1201 | None | gnomAD-4.0.0 | 6.8441E-07 | |
19148 | 54 | M/L | 138 | None | 0.0635 | None | gnomAD-4.0.0 | 2.05325E-06 | |
19148 | 54 | M/T | 138 | rs751101760 | 0.0635 | None | gnomAD-4.0.0 | 2.40064E-06 | |
19148 | 54 | M/V | 138 | rs188185141 | 0.0635 | None | gnomAD-2.1.1 | 4.97484E-04 | |
19148 | 54 | M/V | 138 | rs188185141 | 0.0635 | None | gnomAD-3.1.2 | 3.94612E-04 | |
19148 | 54 | M/V | 138 | rs188185141 | 0.0635 | None | 1000 genomes | 3.99361E-04 | |
19148 | 54 | M/V | 138 | rs188185141 | 0.0635 | None | gnomAD-4.0.0 | 6.66352E-04 | |
19150 | 56 | I/M | 140 | rs2052065992 | 0.0959 | None | gnomAD-3.1.2 | 6.58E-06 | |
19150 | 56 | I/M | 140 | rs2052065992 | 0.0959 | None | gnomAD-4.0.0 | 6.57739E-06 | |
19150 | 56 | I/T | 140 | rs1553659483 | 0.0959 | None | gnomAD-4.0.0 | 3.18484E-06 | |
19151 | 57 | K/N | 141 | rs1362897659 | 0.8367 | None | gnomAD-2.1.1 | 4.03E-06 | |
19151 | 57 | K/N | 141 | rs1362897659 | 0.8367 | None | gnomAD-4.0.0 | 1.59253E-06 | |
19153 | 59 | C/F | 144 | None | 0.0745 | None | gnomAD-4.0.0 | 1.20033E-06 | |
19155 | 61 | R/K | 146 | rs72646833 | 0.3272 | None | gnomAD-2.1.1 | 2.04058E-03 | |
19155 | 61 | R/K | 146 | rs72646833 | 0.3272 | None | gnomAD-3.1.2 | 6.33353E-03 | |
19155 | 61 | R/K | 146 | rs72646833 | 0.3272 | None | 1000 genomes | 5.39137E-03 | |
19155 | 61 | R/K | 146 | rs72646833 | 0.3272 | None | gnomAD-4.0.0 | 1.18339E-03 | |
19156 | 62 | S/G | 148 | None | 0.5065 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19156 | 62 | S/R | 148 | rs2052061972 | 0.5065 | None | gnomAD-4.0.0 | 1.59263E-06 | |
19157 | 63 | H/N | 149 | None | 0.2057 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19157 | 63 | H/P | 149 | None | 0.2057 | None | gnomAD-4.0.0 | 1.59263E-06 | |
19157 | 63 | H/Q | 149 | None | 0.2057 | None | gnomAD-4.0.0 | 6.84461E-07 | |
19159 | 65 | G/D | 152 | None | 0.1722 | None | gnomAD-4.0.0 | 2.05342E-06 | |
19160 | 66 | V/F | 153 | rs200778464 | 0.3791 | None | gnomAD-2.1.1 | 4.03E-06 | |
19160 | 66 | V/F | 153 | rs200778464 | 0.3791 | None | gnomAD-4.0.0 | 6.84489E-07 | |
19160 | 66 | V/I | 153 | None | 0.3791 | None | gnomAD-2.1.1 | 9.28E-05 | |
19160 | 66 | V/I | 153 | None | 0.3791 | None | gnomAD-3.1.2 | 8.55E-05 | |
19160 | 66 | V/I | 153 | None | 0.3791 | None | 1000 genomes | 5.99042E-04 | |
19160 | 66 | V/I | 153 | None | 0.3791 | None | gnomAD-4.0.0 | 5.39335E-05 | |
19160 | 66 | V/L | 153 | rs200778464 | 0.3791 | None | gnomAD-2.1.1 | 1.3965E-04 | |
19160 | 66 | V/L | 153 | rs200778464 | 0.3791 | None | gnomAD-3.1.2 | 1.84167E-04 | |
19160 | 66 | V/L | 153 | rs200778464 | 0.3791 | None | gnomAD-4.0.0 | 3.04406E-04 | |
19161 | 67 | Y/C | 154 | rs754992982 | 0.1257 | None | gnomAD-2.1.1 | 8.07E-06 | |
19161 | 67 | Y/C | 154 | rs754992982 | 0.1257 | None | gnomAD-4.0.0 | 3.18544E-06 | |
19162 | 68 | S/C | 155 | rs751697133 | 0.1704 | None | gnomAD-2.1.1 | 4.03E-06 | |
19162 | 68 | S/C | 155 | rs751697133 | 0.1704 | None | gnomAD-4.0.0 | 1.59286E-06 | |
19165 | 71 | A/D | 158 | None | 0.1753 | None | gnomAD-4.0.0 | 1.59354E-06 | |
19165 | 71 | A/T | 158 | None | 0.1753 | None | gnomAD-4.0.0 | 6.8461E-07 | |
19167 | 73 | N/T | 161 | None | 0.1819 | None | gnomAD-4.0.0 | 4.78077E-06 | |
19168 | 74 | E/D | 162 | None | 0.9115 | None | gnomAD-4.0.0 | 1.59371E-06 | |
19169 | 75 | A/D | 163 | rs183460369 | 0.6661 | None | 1000 genomes | 1.99681E-04 | |
19169 | 75 | A/S | 163 | None | 0.6661 | None | gnomAD-4.0.0 | 1.20032E-06 | |
19169 | 75 | A/V | 163 | rs183460369 | 0.6661 | None | gnomAD-2.1.1 | 4.04E-06 | |
19169 | 75 | A/V | 163 | rs183460369 | 0.6661 | None | gnomAD-3.1.2 | 6.58E-06 | |
19169 | 75 | A/V | 163 | rs183460369 | 0.6661 | None | gnomAD-4.0.0 | 6.57973E-06 | |
19170 | 76 | G/R | 164 | rs750947988 | 0.3276 | None | gnomAD-2.1.1 | 4.31E-05 | |
19170 | 76 | G/R | 164 | rs750947988 | 0.3276 | None | gnomAD-3.1.2 | 1.32E-05 | |
19170 | 76 | G/R | 164 | rs750947988 | 0.3276 | None | gnomAD-4.0.0 | 3.10093E-06 | |
19171 | 77 | E/D | 165 | rs1336572804 | 0.5268 | None | gnomAD-2.1.1 | 4.05E-06 | |
19171 | 77 | E/D | 165 | rs1336572804 | 0.5268 | None | gnomAD-4.0.0 | 3.18854E-06 | |
19173 | 79 | K/N | 168 | rs1009412718 | 0.4374 | None | gnomAD-2.1.1 | 8.11E-06 | |
19173 | 79 | K/N | 168 | rs1009412718 | 0.4374 | None | gnomAD-3.1.2 | 6.58E-06 | |
19173 | 79 | K/N | 168 | rs1009412718 | 0.4374 | None | gnomAD-4.0.0 | 6.41728E-06 | |
19175 | 81 | T/I | 171 | rs1450515648 | 0.5120 | None | gnomAD-2.1.1 | 8.12E-06 | |
19175 | 81 | T/I | 171 | rs1450515648 | 0.5120 | None | gnomAD-4.0.0 | 3.19038E-06 | |
19175 | 81 | T/K | 171 | rs1450515648 | 0.5120 | None | gnomAD-2.1.1 | 7.2E-06 | |
19175 | 81 | T/K | 171 | rs1450515648 | 0.5120 | None | gnomAD-3.1.2 | 6.58E-06 | |
19175 | 81 | T/K | 171 | rs1450515648 | 0.5120 | None | gnomAD-4.0.0 | 6.57549E-06 | |
19177 | 83 | I/L | 173 | rs1338580543 | 0.4278 | None | gnomAD-2.1.1 | 4.06E-06 | |
19177 | 83 | I/L | 173 | rs1338580543 | 0.4278 | None | gnomAD-4.0.0 | 1.5959E-06 | |
19177 | 83 | I/T | 173 | None | 0.4278 | None | gnomAD-4.0.0 | 1.59609E-06 | |
19177 | 83 | I/V | 173 | rs1338580543 | 0.4278 | None | gnomAD-2.1.1 | 7.21E-06 | |
19177 | 83 | I/V | 173 | rs1338580543 | 0.4278 | None | gnomAD-3.1.2 | 6.58E-06 | |
19177 | 83 | I/V | 173 | rs1338580543 | 0.4278 | None | gnomAD-4.0.0 | 6.57505E-06 | |
19178 | 84 | V/A | 174 | None | 0.1058 | None | gnomAD-4.0.0 | 3.60097E-06 | |
19178 | 84 | V/I | 174 | rs762241944 | 0.1058 | None | gnomAD-2.1.1 | 7.74E-05 | |
19178 | 84 | V/I | 174 | rs762241944 | 0.1058 | None | gnomAD-4.0.0 | 2.1241E-05 | |
19179 | 85 | D/N | 175 | rs1383899808 | 0.3129 | None | gnomAD-4.0.0 | 6.85537E-07 |