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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
22156 | 1 | P/S | 1 | None | 0.3071 | None | gnomAD-4.0.0 | 6.93322E-07 | |
22158 | 3 | G/V | 3 | rs569333267 | 0.2188 | None | gnomAD-2.1.1 | 4.45E-06 | |
22158 | 3 | G/V | 3 | rs569333267 | 0.2188 | None | gnomAD-3.1.2 | 1.97E-05 | |
22158 | 3 | G/V | 3 | rs569333267 | 0.2188 | None | 1000 genomes | None | |
22158 | 3 | G/V | 3 | rs569333267 | 0.2188 | None | gnomAD-4.0.0 | 1.9742E-05 | |
22159 | 4 | P/S | 4 | rs1471770452 | 0.3820 | None | gnomAD-2.1.1 | 4.43E-06 | |
22159 | 4 | P/S | 4 | rs1471770452 | 0.3820 | None | gnomAD-4.0.0 | 3.27065E-06 | |
22160 | 5 | P/L | 5 | rs777364605 | 0.1081 | None | gnomAD-2.1.1 | 1.77E-05 | |
22160 | 5 | P/L | 5 | rs777364605 | 0.1081 | None | gnomAD-3.1.2 | 1.32E-05 | |
22160 | 5 | P/L | 5 | rs777364605 | 0.1081 | None | gnomAD-4.0.0 | 2.19011E-05 | |
22160 | 5 | P/Q | 5 | None | 0.1081 | None | gnomAD-4.0.0 | 6.91537E-07 | |
22161 | 6 | A/T | 6 | rs886038883 | 0.1772 | None | gnomAD-3.1.2 | 6.58E-06 | |
22163 | 8 | P/L | 9 | rs752183879 | 0.1640 | None | gnomAD-2.1.1 | 4.38E-06 | |
22163 | 8 | P/L | 9 | rs752183879 | 0.1640 | None | gnomAD-4.0.0 | 6.5072E-06 | |
22164 | 9 | K/I | 11 | rs371081043 | 0.5206 | None | gnomAD-2.1.1 | 6.48E-05 | |
22164 | 9 | K/I | 11 | rs371081043 | 0.5206 | None | gnomAD-3.1.2 | 1.51296E-04 | |
22164 | 9 | K/I | 11 | rs371081043 | 0.5206 | None | gnomAD-4.0.0 | 3.0608E-05 | |
22164 | 9 | K/Q | 11 | None | 0.5206 | None | gnomAD-4.0.0 | 1.62479E-06 | |
22164 | 9 | K/T | 11 | rs371081043 | 0.5206 | None | gnomAD-2.1.1 | 1.3E-05 | |
22164 | 9 | K/T | 11 | rs371081043 | 0.5206 | None | gnomAD-4.0.0 | 2.07058E-06 | |
22167 | 12 | D/H | 14 | rs2047803841 | 0.4675 | None | gnomAD-4.0.0 | 6.8919E-07 | |
22167 | 12 | D/N | 14 | None | 0.4675 | None | gnomAD-4.0.0 | 1.37838E-06 | |
22168 | 13 | T/I | 15 | rs762765266 | 0.1709 | None | gnomAD-2.1.1 | 4.26E-06 | |
22168 | 13 | T/K | 15 | None | 0.1709 | None | gnomAD-4.0.0 | 2.06477E-06 | |
22169 | 14 | T/I | 16 | None | 0.2915 | None | gnomAD-4.0.0 | 1.61167E-06 | |
22170 | 15 | R/C | 17 | rs377642110 | 0.5108 | None | gnomAD-2.1.1 | 1.28E-05 | |
22170 | 15 | R/C | 17 | rs377642110 | 0.5108 | None | gnomAD-3.1.2 | 1.97E-05 | |
22170 | 15 | R/C | 17 | rs377642110 | 0.5108 | None | gnomAD-4.0.0 | 8.09714E-06 | |
22170 | 15 | R/G | 17 | None | 0.5108 | None | gnomAD-4.0.0 | 6.88022E-07 | |
22170 | 15 | R/H | 17 | rs190711640 | 0.5108 | None | gnomAD-2.1.1 | 4.26E-06 | |
22170 | 15 | R/H | 17 | rs190711640 | 0.5108 | None | gnomAD-3.1.2 | 6.58E-06 | |
22170 | 15 | R/H | 17 | rs190711640 | 0.5108 | None | gnomAD-4.0.0 | 7.47543E-06 | |
22170 | 15 | R/L | 17 | rs190711640 | 0.5108 | None | gnomAD-4.0.0 | 7.5697E-06 | |
22171 | 16 | S/I | 18 | rs775999434 | 0.3574 | None | gnomAD-2.1.1 | 4.24E-06 | |
22171 | 16 | S/I | 18 | rs775999434 | 0.3574 | None | gnomAD-4.0.0 | 1.37538E-06 | |
22171 | 16 | S/N | 18 | rs775999434 | 0.3574 | None | gnomAD-2.1.1 | 4.24E-06 | |
22171 | 16 | S/N | 18 | rs775999434 | 0.3574 | None | gnomAD-4.0.0 | 1.37538E-06 | |
22171 | 16 | S/R | 18 | rs768917357 | 0.3574 | None | gnomAD-2.1.1 | 4.24E-06 | |
22171 | 16 | S/R | 18 | rs768917357 | 0.3574 | None | gnomAD-4.0.0 | 1.3753E-06 | |
22172 | 17 | S/Y | 19 | rs1455920569 | 0.1190 | None | gnomAD-2.1.1 | 4.22E-06 | |
22172 | 17 | S/Y | 19 | rs1455920569 | 0.1190 | None | gnomAD-4.0.0 | 1.60848E-06 | |
22173 | 18 | V/A | 20 | rs746199327 | 0.1003 | None | gnomAD-2.1.1 | 4.2E-06 | |
22173 | 18 | V/A | 20 | rs746199327 | 0.1003 | None | gnomAD-4.0.0 | 1.60731E-06 | |
22173 | 18 | V/L | 20 | rs1347199587 | 0.1003 | None | gnomAD-2.1.1 | 4.21E-06 | |
22174 | 19 | S/N | 21 | None | 0.1073 | None | gnomAD-4.0.0 | 6.87091E-07 | |
22176 | 21 | S/F | 23 | rs779303152 | 0.1602 | None | gnomAD-2.1.1 | 3.34E-05 | |
22176 | 21 | S/F | 23 | rs779303152 | 0.1602 | None | gnomAD-3.1.2 | 4.6E-05 | |
22176 | 21 | S/F | 23 | rs779303152 | 0.1602 | None | gnomAD-4.0.0 | 5.03502E-05 | |
22177 | 22 | W/L | 24 | None | 0.1338 | None | gnomAD-4.0.0 | 1.60362E-06 | |
22178 | 23 | G/D | 25 | None | 0.2192 | None | gnomAD-4.0.0 | 2.40065E-06 | |
22178 | 23 | G/S | 25 | None | 0.2192 | None | gnomAD-4.0.0 | 1.60301E-06 | |
22178 | 23 | G/V | 25 | None | 0.2192 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22179 | 24 | K/E | 26 | rs747865430 | 0.8167 | None | gnomAD-2.1.1 | 8.33E-06 | |
22179 | 24 | K/E | 26 | rs747865430 | 0.8167 | None | gnomAD-4.0.0 | 3.20492E-06 | |
22180 | 25 | P/T | 27 | None | 0.1940 | None | gnomAD-4.0.0 | 1.60199E-06 | |
22181 | 26 | A/G | 28 | rs1187714227 | 0.8835 | None | gnomAD-2.1.1 | 7.33E-06 | |
22181 | 26 | A/G | 28 | rs1187714227 | 0.8835 | None | gnomAD-3.1.2 | 6.57E-06 | |
22181 | 26 | A/G | 28 | rs1187714227 | 0.8835 | None | gnomAD-4.0.0 | 2.57455E-06 | |
22181 | 26 | A/T | 28 | None | 0.8835 | None | gnomAD-4.0.0 | 6.86036E-07 | |
22182 | 27 | Y/C | 29 | rs879016147 | 0.4964 | None | gnomAD-3.1.2 | 1.32E-05 | |
22182 | 27 | Y/C | 29 | rs879016147 | 0.4964 | None | gnomAD-4.0.0 | 9.3169E-06 | |
22182 | 27 | Y/D | 29 | rs878854327 | 0.4964 | None | gnomAD-2.1.1 | 3.19E-05 | |
22182 | 27 | Y/D | 29 | rs878854327 | 0.4964 | None | gnomAD-3.1.2 | 1.97E-05 | |
22182 | 27 | Y/D | 29 | rs878854327 | 0.4964 | None | gnomAD-4.0.0 | 6.43525E-06 | |
22183 | 28 | D/E | 30 | None | 0.2410 | None | gnomAD-4.0.0 | 6.8592E-07 | |
22184 | 29 | G/S | 31 | rs1262240030 | 0.0773 | None | gnomAD-3.1.2 | 6.58E-06 | |
22184 | 29 | G/S | 31 | rs1262240030 | 0.0773 | None | gnomAD-4.0.0 | 2.48374E-06 | |
22185 | 30 | G/S | 32 | rs560206502 | 0.3126 | None | gnomAD-2.1.1 | 4.11E-06 | |
22185 | 30 | G/S | 32 | rs560206502 | 0.3126 | None | gnomAD-3.1.2 | 1.97E-05 | |
22185 | 30 | G/S | 32 | rs560206502 | 0.3126 | None | 1000 genomes | 1.99681E-04 | |
22185 | 30 | G/S | 32 | rs560206502 | 0.3126 | None | gnomAD-4.0.0 | 5.58748E-06 | |
22186 | 31 | S/G | 33 | None | 0.1308 | None | gnomAD-4.0.0 | 1.59774E-06 | |
22186 | 31 | S/N | 33 | rs529719640 | 0.1308 | None | gnomAD-2.1.1 | 4.11E-06 | |
22186 | 31 | S/N | 33 | rs529719640 | 0.1308 | None | gnomAD-3.1.2 | 6.58E-06 | |
22186 | 31 | S/N | 33 | rs529719640 | 0.1308 | None | 1000 genomes | 1.99681E-04 | |
22186 | 31 | S/N | 33 | rs529719640 | 0.1308 | None | gnomAD-4.0.0 | 6.57022E-06 | |
22186 | 31 | S/R | 33 | rs750211489 | 0.1308 | None | gnomAD-2.1.1 | 4.1E-06 | |
22186 | 31 | S/R | 33 | rs750211489 | 0.1308 | None | gnomAD-3.1.2 | 1.31E-05 | |
22186 | 31 | S/R | 33 | rs750211489 | 0.1308 | None | 1000 genomes | 3.99361E-04 | |
22186 | 31 | S/R | 33 | rs750211489 | 0.1308 | None | gnomAD-4.0.0 | 1.20034E-06 | |
22187 | 32 | P/R | 34 | None | 0.6751 | None | gnomAD-4.0.0 | 6.85345E-07 | |
22187 | 32 | P/S | 34 | rs1160117316 | 0.6751 | None | gnomAD-3.1.2 | 6.58E-06 | |
22187 | 32 | P/S | 34 | rs1160117316 | 0.6751 | None | gnomAD-4.0.0 | 6.57644E-06 | |
22189 | 34 | I/T | 36 | rs369934753 | 0.3449 | None | gnomAD-2.1.1 | 1.44E-05 | |
22189 | 34 | I/T | 36 | rs369934753 | 0.3449 | None | gnomAD-3.1.2 | 2.63E-05 | |
22189 | 34 | I/T | 36 | rs369934753 | 0.3449 | None | gnomAD-4.0.0 | 3.84645E-05 | |
22190 | 35 | G/R | 37 | rs757537780 | 0.0815 | None | gnomAD-2.1.1 | 1.22E-05 | |
22190 | 35 | G/R | 37 | rs757537780 | 0.0815 | None | gnomAD-3.1.2 | 3.29E-05 | |
22190 | 35 | G/R | 37 | rs757537780 | 0.0815 | None | gnomAD-4.0.0 | 1.40835E-04 | |
22192 | 37 | L/F | 39 | None | 0.1113 | None | gnomAD-4.0.0 | 1.59535E-06 | |
22192 | 37 | L/P | 39 | None | 0.1113 | None | gnomAD-4.0.0 | 2.40066E-06 | |
22193 | 38 | V/A | 40 | rs775454536 | 0.0981 | None | gnomAD-2.1.1 | 4.05E-06 | |
22193 | 38 | V/A | 40 | rs775454536 | 0.0981 | None | gnomAD-4.0.0 | 4.78373E-06 | |
22193 | 38 | V/I | 40 | rs760767895 | 0.0981 | None | gnomAD-2.1.1 | 8.1E-06 | |
22193 | 38 | V/I | 40 | rs760767895 | 0.0981 | None | gnomAD-3.1.2 | 1.97E-05 | |
22193 | 38 | V/I | 40 | rs760767895 | 0.0981 | None | gnomAD-4.0.0 | 2.10898E-05 | |
22194 | 39 | E/K | 41 | rs768049902 | 0.0892 | None | gnomAD-2.1.1 | 8.91E-05 | |
22194 | 39 | E/K | 41 | rs768049902 | 0.0892 | None | gnomAD-3.1.2 | 1.97E-05 | |
22194 | 39 | E/K | 41 | rs768049902 | 0.0892 | None | gnomAD-4.0.0 | 3.5974E-05 | |
22194 | 39 | E/V | 41 | rs1425317708 | 0.0892 | None | gnomAD-2.1.1 | 4.05E-06 | |
22194 | 39 | E/V | 41 | rs1425317708 | 0.0892 | None | gnomAD-4.0.0 | 3.18897E-06 | |
22195 | 40 | V/L | 42 | None | 0.1240 | None | gnomAD-4.0.0 | 1.59442E-06 | |
22197 | 42 | R/Q | 44 | rs374656017 | 0.3421 | None | gnomAD-2.1.1 | 9.69E-05 | |
22197 | 42 | R/Q | 44 | rs374656017 | 0.3421 | None | gnomAD-3.1.2 | 1.57882E-04 | |
22197 | 42 | R/Q | 44 | rs374656017 | 0.3421 | None | gnomAD-4.0.0 | 6.38772E-05 | |
22197 | 42 | R/W | 44 | rs774696610 | 0.3421 | None | gnomAD-2.1.1 | 2.51E-05 | |
22197 | 42 | R/W | 44 | rs774696610 | 0.3421 | None | gnomAD-3.1.2 | 5.26E-05 | |
22197 | 42 | R/W | 44 | rs774696610 | 0.3421 | None | gnomAD-4.0.0 | 1.05438E-05 | |
22198 | 43 | A/T | 50 | rs2047776872 | 0.2291 | None | gnomAD-3.1.2 | 6.58E-06 | |
22198 | 43 | A/T | 50 | rs2047776872 | 0.2291 | None | gnomAD-4.0.0 | 2.56623E-06 | |
22200 | 45 | S/C | 60 | None | 0.2668 | None | gnomAD-4.0.0 | 1.36939E-06 | |
22200 | 45 | S/F | 60 | rs749655019 | 0.2668 | None | gnomAD-2.1.1 | 2.02E-05 | |
22200 | 45 | S/F | 60 | rs749655019 | 0.2668 | None | gnomAD-4.0.0 | 6.84693E-06 | |
22201 | 46 | D/G | 63 | None | 0.8297 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22201 | 46 | D/N | 63 | rs368924655 | 0.8297 | None | gnomAD-2.1.1 | 2.15E-05 | |
22201 | 46 | D/N | 63 | rs368924655 | 0.8297 | None | gnomAD-3.1.2 | 9.21E-05 | |
22201 | 46 | D/N | 63 | rs368924655 | 0.8297 | None | gnomAD-4.0.0 | 3.22449E-05 | |
22202 | 47 | N/K | 64 | rs1224096976 | 0.8175 | None | gnomAD-4.0.0 | 3.18729E-06 | |
22203 | 48 | W/G | 65 | None | 0.2508 | None | gnomAD-4.0.0 | 1.59364E-06 | |
22204 | 49 | V/A | 66 | None | 0.5620 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22204 | 49 | V/M | 66 | rs376238023 | 0.5620 | None | gnomAD-2.1.1 | 8.07E-06 | |
22204 | 49 | V/M | 66 | rs376238023 | 0.5620 | None | gnomAD-3.1.2 | 6.58E-06 | |
22204 | 49 | V/M | 66 | rs376238023 | 0.5620 | None | gnomAD-4.0.0 | 5.39495E-05 | |
22205 | 50 | R/K | 67 | rs72646869 | 0.3880 | None | gnomAD-2.1.1 | 1.36236E-02 | |
22205 | 50 | R/K | 67 | rs72646869 | 0.3880 | None | gnomAD-3.1.2 | 1.26459E-02 | |
22205 | 50 | R/K | 67 | rs72646869 | 0.3880 | None | 1000 genomes | 5.79073E-03 | |
22205 | 50 | R/K | 67 | rs72646869 | 0.3880 | None | gnomAD-4.0.0 | 1.78606E-02 | |
22206 | 51 | C/W | 68 | None | 0.2091 | None | gnomAD-4.0.0 | 6.84639E-07 | |
22206 | 51 | C/Y | 68 | None | 0.2091 | None | gnomAD-4.0.0 | 2.73852E-06 | |
22207 | 52 | N/K | 69 | rs2047770950 | 0.1625 | None | gnomAD-3.1.2 | 6.58E-06 | |
22207 | 52 | N/K | 69 | rs2047770950 | 0.1625 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22209 | 54 | P/L | 72 | rs779009635 | 0.7478 | None | gnomAD-2.1.1 | 8.06E-06 | |
22209 | 54 | P/L | 72 | rs779009635 | 0.7478 | None | gnomAD-4.0.0 | 2.05388E-06 | |
22209 | 54 | P/T | 72 | None | 0.7478 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22210 | 55 | Q/E | 74 | None | 0.8041 | None | gnomAD-4.0.0 | 1.59349E-06 | |
22210 | 55 | Q/K | 74 | rs757047748 | 0.8041 | None | gnomAD-2.1.1 | 8.06E-06 | |
22210 | 55 | Q/K | 74 | rs757047748 | 0.8041 | None | gnomAD-4.0.0 | 3.18699E-06 | |
22215 | 60 | T/N | 89 | None | 0.2171 | None | gnomAD-4.0.0 | 1.59361E-06 | |
22216 | 61 | R/C | 90 | rs1365775589 | 0.6609 | None | gnomAD-2.1.1 | 1.21E-05 | |
22216 | 61 | R/C | 90 | rs1365775589 | 0.6609 | None | gnomAD-4.0.0 | 8.90043E-06 | |
22216 | 61 | R/H | 90 | None | 0.6609 | None | gnomAD-2.1.1 | 2.82E-05 | |
22216 | 61 | R/H | 90 | None | 0.6609 | None | gnomAD-3.1.2 | 3.29E-05 | |
22216 | 61 | R/H | 90 | None | 0.6609 | None | gnomAD-4.0.0 | 4.46481E-05 | |
22216 | 61 | R/L | 90 | rs753717922 | 0.6609 | None | gnomAD-4.0.0 | 2.7386E-06 | |
22216 | 61 | R/P | 90 | rs753717922 | 0.6609 | None | gnomAD-2.1.1 | 4.03E-06 | |
22216 | 61 | R/P | 90 | rs753717922 | 0.6609 | None | gnomAD-4.0.0 | 6.8465E-07 | |
22217 | 62 | F/C | 91 | rs764330098 | 0.1910 | None | gnomAD-2.1.1 | 1.07E-05 | |
22217 | 62 | F/C | 91 | rs764330098 | 0.1910 | None | gnomAD-3.1.2 | 2.63E-05 | |
22217 | 62 | F/C | 91 | rs764330098 | 0.1910 | None | gnomAD-4.0.0 | 1.55021E-05 | |
22217 | 62 | F/L | 91 | None | 0.1910 | None | gnomAD-4.0.0 | 1.20043E-06 | |
22218 | 63 | E/D | 92 | rs1210761677 | 0.3925 | None | gnomAD-2.1.1 | 3.19E-05 | |
22218 | 63 | E/D | 92 | rs1210761677 | 0.3925 | None | gnomAD-4.0.0 | 7.96772E-06 | |
22218 | 63 | E/V | 92 | rs2047762977 | 0.3925 | None | gnomAD-3.1.2 | 6.58E-06 | |
22218 | 63 | E/V | 92 | rs2047762977 | 0.3925 | None | gnomAD-4.0.0 | 6.57739E-06 | |
22220 | 65 | T/I | 94 | None | 0.5618 | None | gnomAD-4.0.0 | 1.36926E-06 | |
22222 | 67 | L/M | 97 | None | 0.1236 | None | gnomAD-4.0.0 | 1.36929E-06 | |
22223 | 68 | M/I | 98 | rs1049450842 | 0.6091 | None | gnomAD-2.1.1 | 1.21E-05 | |
22223 | 68 | M/I | 98 | rs1049450842 | 0.6091 | None | gnomAD-4.0.0 | 4.10796E-06 | |
22223 | 68 | M/K | 98 | rs752794705 | 0.6091 | None | gnomAD-2.1.1 | 4.03E-06 | |
22223 | 68 | M/K | 98 | rs752794705 | 0.6091 | None | gnomAD-4.0.0 | 3.42324E-06 | |
22223 | 68 | M/L | 98 | None | 0.6091 | None | gnomAD-4.0.0 | 3.60102E-06 | |
22223 | 68 | M/T | 98 | rs752794705 | 0.6091 | None | gnomAD-2.1.1 | 8.07E-06 | |
22223 | 68 | M/T | 98 | rs752794705 | 0.6091 | None | gnomAD-3.1.2 | 6.58E-06 | |
22223 | 68 | M/T | 98 | rs752794705 | 0.6091 | None | gnomAD-4.0.0 | 6.20091E-06 | |
22224 | 69 | E/K | 99 | None | 0.4358 | None | gnomAD-4.0.0 | 1.59364E-06 | |
22225 | 70 | D/N | 100 | rs72646870 | 0.7990 | None | gnomAD-2.1.1 | 1.89742E-04 | |
22225 | 70 | D/N | 100 | rs72646870 | 0.7990 | None | gnomAD-3.1.2 | 3.09093E-04 | |
22225 | 70 | D/N | 100 | rs72646870 | 0.7990 | None | 1000 genomes | 1.99681E-04 | |
22225 | 70 | D/N | 100 | rs72646870 | 0.7990 | None | gnomAD-4.0.0 | 3.60894E-04 | |
22226 | 71 | T/I | 102 | None | 0.1598 | None | gnomAD-4.0.0 | 1.20034E-06 | |
22227 | 72 | Q/P | 103 | rs1403005823 | 0.2750 | None | gnomAD-3.1.2 | 6.58E-06 | |
22227 | 72 | Q/P | 103 | rs1403005823 | 0.2750 | None | gnomAD-4.0.0 | 6.57566E-06 | |
22227 | 72 | Q/R | 103 | rs1403005823 | 0.2750 | None | gnomAD-3.1.2 | 6.58E-06 | |
22227 | 72 | Q/R | 103 | rs1403005823 | 0.2750 | None | gnomAD-4.0.0 | 6.57566E-06 | |
22228 | 73 | Y/H | 104 | rs1170889599 | 0.1038 | None | gnomAD-2.1.1 | 4.03E-06 | |
22228 | 73 | Y/H | 104 | rs1170889599 | 0.1038 | None | gnomAD-4.0.0 | 1.59384E-06 | |
22230 | 75 | F/L | 106 | None | 0.1164 | None | gnomAD-4.0.0 | 1.36958E-06 | |
22230 | 75 | F/V | 106 | None | 0.1164 | None | gnomAD-4.0.0 | 1.59392E-06 | |
22231 | 76 | R/C | 107 | rs760026147 | 0.1138 | None | gnomAD-2.1.1 | 4.04E-06 | |
22231 | 76 | R/C | 107 | rs760026147 | 0.1138 | None | gnomAD-3.1.2 | 1.32E-05 | |
22231 | 76 | R/C | 107 | rs760026147 | 0.1138 | None | gnomAD-4.0.0 | 9.92409E-06 | |
22231 | 76 | R/H | 107 | rs200971254 | 0.1138 | None | gnomAD-2.1.1 | 4.33418E-04 | |
22231 | 76 | R/H | 107 | rs200971254 | 0.1138 | None | gnomAD-3.1.2 | 1.09182E-03 | |
22231 | 76 | R/H | 107 | rs200971254 | 0.1138 | None | 1000 genomes | 1.79712E-03 | |
22231 | 76 | R/H | 107 | rs200971254 | 0.1138 | None | gnomAD-4.0.0 | 2.20759E-04 | |
22231 | 76 | R/L | 107 | rs200971254 | 0.1138 | None | gnomAD-2.1.1 | 8.07E-06 | |
22231 | 76 | R/L | 107 | rs200971254 | 0.1138 | None | gnomAD-4.0.0 | 4.10829E-06 | |
22232 | 77 | V/A | 108 | None | 0.0836 | None | gnomAD-4.0.0 | 1.59395E-06 | |
22232 | 77 | V/E | 108 | rs2047754989 | 0.0836 |
MmD-HD |
Literature | None | |
22232 | 77 | V/L | 108 | rs979149024 | 0.0836 | None | gnomAD-4.0.0 | 1.20033E-06 | |
22233 | 78 | Y/C | 109 | rs763250975 | 0.1425 | None | gnomAD-2.1.1 | 8.07E-06 | |
22233 | 78 | Y/C | 109 | rs763250975 | 0.1425 | None | gnomAD-4.0.0 | 3.18792E-06 | |
22235 | 80 | V/I | 111 | rs751354601 | 0.0901 | None | gnomAD-2.1.1 | 1.07513E-04 | |
22235 | 80 | V/I | 111 | rs751354601 | 0.0901 | None | gnomAD-3.1.2 | 1.11792E-04 | |
22235 | 80 | V/I | 111 | rs751354601 | 0.0901 | None | gnomAD-4.0.0 | 9.55174E-05 | |
22236 | 81 | N/S | 112 | rs771424887 | 0.0814 | None | gnomAD-2.1.1 | 8.07E-06 | |
22236 | 81 | N/S | 112 | rs771424887 | 0.0814 | None | gnomAD-3.1.2 | 6.58E-06 | |
22236 | 81 | N/S | 112 | rs771424887 | 0.0814 | None | gnomAD-4.0.0 | 6.57523E-06 | |
22237 | 82 | K/N | 113 | None | 0.5227 | None | gnomAD-4.0.0 | 1.59508E-06 | |
22238 | 83 | I/N | 114 | rs1233016025 | 0.3228 | None | gnomAD-3.1.2 | 6.58E-06 | |
22238 | 83 | I/N | 114 | rs1233016025 | 0.3228 | None | gnomAD-4.0.0 | 2.56756E-06 | |
22238 | 83 | I/T | 114 | rs1233016025 | 0.3228 | None | gnomAD-2.1.1 | 4.04E-06 | |
22238 | 83 | I/T | 114 | rs1233016025 | 0.3228 | None | gnomAD-4.0.0 | 1.59521E-06 | |
22238 | 83 | I/V | 114 | None | 0.3228 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22240 | 85 | Y/C | 117 | rs745376985 | 0.4756 | None | gnomAD-2.1.1 | 4.04E-06 | |
22240 | 85 | Y/C | 117 | rs745376985 | 0.4756 | None | gnomAD-4.0.0 | 1.37016E-06 | |
22240 | 85 | Y/N | 117 | None | 0.4756 | None | gnomAD-4.0.0 | 1.20033E-06 | |
22241 | 86 | S/R | 118 | rs778956602 | 0.0851 | None | gnomAD-2.1.1 | 8.09E-06 | |
22241 | 86 | S/R | 118 | rs778956602 | 0.0851 | None | gnomAD-3.1.2 | 1.97E-05 | |
22241 | 86 | S/R | 118 | rs778956602 | 0.0851 | None | gnomAD-4.0.0 | 8.69015E-06 | |
22242 | 87 | D/H | 119 | None | 0.7785 | None | gnomAD-4.0.0 | 1.59891E-06 | |
22242 | 87 | D/N | 119 | None | 0.7785 | None | gnomAD-4.0.0 | 1.59891E-06 | |
22243 | 88 | P/T | 120 | None | 0.2726 | None | gnomAD-4.0.0 | 4.79862E-06 | |
22245 | 90 | D/E | 122 | rs1306264861 | 0.5699 | None | gnomAD-2.1.1 | 1.22E-05 | |
22245 | 90 | D/E | 122 | rs1306264861 | 0.5699 | None | gnomAD-4.0.0 | 4.81058E-06 | |
22245 | 90 | D/N | 122 | None | 0.5699 | None | gnomAD-4.0.0 | 1.37255E-06 | |
22245 | 90 | D/V | 122 | rs757282339 | 0.5699 | None | gnomAD-2.1.1 | 4.06E-06 | |
22245 | 90 | D/V | 122 | rs757282339 | 0.5699 | None | gnomAD-3.1.2 | 6.58E-06 | |
22245 | 90 | D/V | 122 | rs757282339 | 0.5699 | None | gnomAD-4.0.0 | 3.86496E-06 | |
22245 | 90 | D/Y | 122 | None | 0.5699 | None | gnomAD-4.0.0 | 8.92157E-06 | |
22246 | 91 | V/A | 123 | None | 0.1559 | None | gnomAD-4.0.0 | 1.60916E-06 | |
22246 | 91 | V/M | 123 | rs1393150545 | 0.1559 | None | gnomAD-2.1.1 | 8.15E-06 | |
22246 | 91 | V/M | 123 | rs1393150545 | 0.1559 | None | gnomAD-4.0.0 | 1.78752E-05 | |
22247 | 92 | P/L | 124 | rs749070757 | 0.5349 | None | gnomAD-2.1.1 | 4.08E-06 | |
22247 | 92 | P/L | 124 | rs749070757 | 0.5349 | None | gnomAD-4.0.0 | 3.43944E-06 | |
22248 | 93 | D/E | 125 | rs2047745662 | 0.8196 | None | gnomAD-4.0.0 | 1.61291E-06 | |
22250 | 95 | H/Q | 127 | rs928913814 | 0.2579 | None | gnomAD-2.1.1 | 3.19E-05 | |
22250 | 95 | H/Q | 127 | rs928913814 | 0.2579 | None | gnomAD-3.1.2 | 1.32E-05 | |
22250 | 95 | H/Q | 127 | rs928913814 | 0.2579 | None | gnomAD-4.0.0 | 4.99094E-06 | |
22251 | 96 | Y/H | 129 | rs1298637846 | 0.4294 | None | gnomAD-2.1.1 | 3.19E-05 | |
22251 | 96 | Y/N | 129 | rs1298637846 | 0.4294 | None | gnomAD-2.1.1 | 4.13E-06 | |
22251 | 96 | Y/N | 129 | rs1298637846 | 0.4294 | None | gnomAD-4.0.0 | 1.62264E-06 | |
22252 | 97 | P/L | 130 | None | 0.0857 | None | gnomAD-4.0.0 | 1.62684E-06 | |
22254 | 99 | D/N | 132 | rs756359190 | 0.4911 | None | gnomAD-2.1.1 | 4.21E-06 | |
22254 | 99 | D/N | 132 | rs756359190 | 0.4911 | None | gnomAD-3.1.2 | 6.58E-06 | |
22254 | 99 | D/N | 132 | rs756359190 | 0.4911 | None | gnomAD-4.0.0 | 3.93266E-06 |