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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
9989 | 1 | P/T | 1 | rs1553877891 | 0.4705 | None | gnomAD-4.0.0 | 8.21707E-06 | |
9990 | 2 | A/V | 2 | rs1447594243 | 0.1890 | None | gnomAD-2.1.1 | 4.02E-06 | |
9990 | 2 | A/V | 2 | rs1447594243 | 0.1890 | None | gnomAD-3.1.2 | 6.57E-06 | |
9990 | 2 | A/V | 2 | rs1447594243 | 0.1890 | None | gnomAD-4.0.0 | 6.56909E-06 | |
9992 | 4 | E/D | 4 | None | 0.3198 | None | gnomAD-4.0.0 | 3.18488E-06 | |
9992 | 4 | E/K | 4 | None | 0.3198 | None | gnomAD-4.0.0 | 1.36908E-06 | |
9993 | 5 | R/G | 5 | None | 0.5859 | None | gnomAD-4.0.0 | 6.8446E-07 | |
9993 | 5 | R/Q | 5 | rs575360239 | 0.5859 | None | gnomAD-2.1.1 | 4.02E-06 | |
9993 | 5 | R/Q | 5 | rs575360239 | 0.5859 | None | gnomAD-4.0.0 | 3.0992E-06 | |
9993 | 5 | R/W | 5 | rs375415014 | 0.5859 | None | gnomAD-2.1.1 | 1.43E-05 | |
9993 | 5 | R/W | 5 | rs375415014 | 0.5859 | None | gnomAD-3.1.2 | 3.94E-05 | |
9993 | 5 | R/W | 5 | rs375415014 | 0.5859 | None | gnomAD-4.0.0 | 2.29357E-05 | |
9994 | 6 | H/R | 7 | None | 0.6228 | None | gnomAD-4.0.0 | 1.59216E-06 | |
9995 | 7 | L/P | 8 | rs1060500554 | 0.1580 | None | gnomAD-2.1.1 | 3.18E-05 | |
9995 | 7 | L/P | 8 | rs1060500554 | 0.1580 | None | gnomAD-3.1.2 | 6.57E-06 | |
9995 | 7 | L/P | 8 | rs1060500554 | 0.1580 | None | gnomAD-4.0.0 | 6.40658E-06 | |
9996 | 8 | Q/P | 9 | None | 0.7085 | None | gnomAD-4.0.0 | 6.84327E-07 | |
9996 | 8 | Q/R | 9 | None | 0.7085 | None | gnomAD-4.0.0 | 6.84327E-07 | |
9997 | 9 | D/N | 11 | rs1287288966 | 0.6341 | None | gnomAD-2.1.1 | 4.02E-06 | |
9997 | 9 | D/N | 11 | rs1287288966 | 0.6341 | None | gnomAD-3.1.2 | 6.57E-06 | |
9997 | 9 | D/N | 11 | rs1287288966 | 0.6341 | None | gnomAD-4.0.0 | 3.8442E-06 | |
9997 | 9 | D/V | 11 | rs1211337787 | 0.6341 | None | gnomAD-2.1.1 | 4.01E-06 | |
9998 | 10 | V/M | 13 | rs1359452427 | 0.2742 | None | gnomAD-2.1.1 | 4.01E-06 | |
9999 | 11 | T/A | 14 | rs776483588 | 0.4437 | None | gnomAD-2.1.1 | 4.01E-06 | |
9999 | 11 | T/A | 14 | rs776483588 | 0.4437 | None | gnomAD-3.1.2 | 1.31E-05 | |
9999 | 11 | T/A | 14 | rs776483588 | 0.4437 | None | gnomAD-4.0.0 | 3.84321E-06 | |
10000 | 12 | L/P | 16 | rs768379279 | 0.2343 | None | gnomAD-2.1.1 | 2.41E-05 | |
10000 | 12 | L/P | 16 | rs768379279 | 0.2343 | None | gnomAD-3.1.2 | 6.57E-06 | |
10000 | 12 | L/P | 16 | rs768379279 | 0.2343 | None | gnomAD-4.0.0 | 9.29481E-06 | |
10001 | 13 | K/N | 18 | rs747230082 | 0.6303 | None | gnomAD-2.1.1 | 8.03E-06 | |
10001 | 13 | K/N | 18 | rs747230082 | 0.6303 | None | gnomAD-4.0.0 | 3.18227E-06 | |
10001 | 13 | K/R | 18 | None | 0.6303 | None | gnomAD-4.0.0 | 4.80129E-06 | |
10005 | 17 | T/I | 26 | rs2075505818 | 0.4160 | None | gnomAD-4.0.0 | 1.59101E-06 | |
10007 | 19 | T/N | 29 | rs1168557032 | 0.4075 | None | gnomAD-4.0.0 | 2.40064E-06 | |
10008 | 20 | M/R | 30 | None | 0.1286 | None | gnomAD-4.0.0 | 4.80129E-06 | |
10008 | 20 | M/T | 30 | None | 0.1286 | None | gnomAD-4.0.0 | 1.20032E-06 | |
10008 | 20 | M/V | 30 | rs1553877757 | 0.1286 | None | gnomAD-3.1.2 | 6.57E-06 | |
10008 | 20 | M/V | 30 | rs1553877757 | 0.1286 | None | gnomAD-4.0.0 | 3.04463E-06 | |
10009 | 21 | T/I | 31 | None | 0.3107 | None | gnomAD-4.0.0 | 1.59086E-06 | |
10010 | 22 | C/G | 33 | None | 0.0924 | None | gnomAD-4.0.0 | 1.59085E-06 | |
10012 | 24 | F/V | 35 | None | 0.1400 | None | gnomAD-4.0.0 | 1.36827E-06 | |
10013 | 25 | S/F | 38 | None | 0.1559 | None | gnomAD-4.0.0 | 1.20032E-06 | |
10013 | 25 | S/P | 38 | None | 0.1559 | None | gnomAD-4.0.0 | 1.59086E-06 | |
10014 | 26 | V/L | 41 | rs745949099 | 0.1860 | None | gnomAD-2.1.1 | 4.01E-06 | |
10014 | 26 | V/L | 41 | rs745949099 | 0.1860 | None | gnomAD-3.1.2 | 6.57E-06 | |
10014 | 26 | V/L | 41 | rs745949099 | 0.1860 | None | gnomAD-4.0.0 | 3.84235E-06 | |
10015 | 27 | P/L | 42 | rs1178694077 | 0.3166 | None | gnomAD-2.1.1 | 3.18E-05 | |
10015 | 27 | P/L | 42 | rs1178694077 | 0.3166 | None | gnomAD-3.1.2 | 1.31E-05 | |
10015 | 27 | P/L | 42 | rs1178694077 | 0.3166 | None | gnomAD-4.0.0 | 4.05983E-06 | |
10015 | 27 | P/S | 42 | rs779333871 | 0.3166 | None | gnomAD-2.1.1 | 4.01E-06 | |
10015 | 27 | P/S | 42 | rs779333871 | 0.3166 | None | gnomAD-4.0.0 | 7.95434E-06 | |
10017 | 29 | V/L | 44 | None | 0.1766 | None | gnomAD-4.0.0 | 1.20032E-06 | |
10018 | 30 | K/I | 45 | None | 0.9470 | None | gnomAD-4.0.0 | 1.20032E-06 | |
10019 | 31 | S/A | 46 | rs754368714 | 0.2013 | None | gnomAD-2.1.1 | 1.78E-05 | |
10019 | 31 | S/A | 46 | rs754368714 | 0.2013 | None | gnomAD-3.1.2 | 1.31E-05 | |
10019 | 31 | S/A | 46 | rs754368714 | 0.2013 | None | gnomAD-4.0.0 | 2.10681E-05 | |
10019 | 31 | S/C | 46 | None | 0.2013 | None | gnomAD-4.0.0 | 1.20032E-06 | |
10019 | 31 | S/P | 46 | rs754368714 | 0.2013 | None | gnomAD-2.1.1 | 4.01E-06 | |
10019 | 31 | S/P | 46 | rs754368714 | 0.2013 | None | gnomAD-4.0.0 | 6.84135E-07 | |
10020 | 32 | E/D | 47 | rs764487564 | 0.5013 | None | gnomAD-2.1.1 | 4.01E-06 | |
10020 | 32 | E/D | 47 | rs764487564 | 0.5013 | None | gnomAD-4.0.0 | 6.84135E-07 | |
10021 | 33 | W/R | 48 | None | 0.1570 | None | gnomAD-4.0.0 | 1.59086E-06 | |
10023 | 35 | R/G | 50 | None | 0.1664 | None | gnomAD-4.0.0 | 1.36827E-06 | |
10023 | 35 | R/S | 50 | None | 0.1664 | None | gnomAD-4.0.0 | 1.20032E-06 | |
10025 | 37 | G/S | 52 | None | 0.4841 | None | gnomAD-4.0.0 | 2.40064E-06 | |
10025 | 37 | G/V | 52 | None | 0.4841 | None | gnomAD-4.0.0 | 1.20032E-06 | |
10026 | 38 | R/T | 55 | rs1327825232 | 0.7927 | None | gnomAD-4.0.0 | 6.15722E-06 | |
10027 | 39 | I/L | 56 | None | 0.4652 | None | gnomAD-4.0.0 | 1.59086E-06 | |
10027 | 39 | I/T | 56 | rs751219454 | 0.4652 | None | gnomAD-2.1.1 | 4.01E-06 | |
10027 | 39 | I/T | 56 | rs751219454 | 0.4652 | None | gnomAD-4.0.0 | 1.59087E-06 | |
10029 | 41 | K/Q | 59 | None | 0.8590 | None | gnomAD-4.0.0 | 1.36827E-06 | |
10030 | 42 | P/S | 70 | rs368531555 | 0.4268 | None | gnomAD-2.1.1 | 1.6E-05 | |
10030 | 42 | P/S | 70 | rs368531555 | 0.4268 | None | gnomAD-3.1.2 | 3.29E-05 | |
10030 | 42 | P/S | 70 | rs368531555 | 0.4268 | None | gnomAD-4.0.0 | 3.90372E-05 | |
10030 | 42 | P/T | 70 | rs368531555 | 0.4268 | None | gnomAD-4.0.0 | 6.84134E-07 | |
10032 | 44 | G/D | 111 | None | 0.6382 | None | gnomAD-4.0.0 | 1.20032E-06 | |
10032 | 44 | G/R | 111 | rs1336921459 | 0.6382 | None | gnomAD-4.0.0 | 1.20032E-06 | |
10034 | 46 | H/D | 121 | None | 0.2770 | None | gnomAD-4.0.0 | 3.60097E-06 | |
10038 | 50 | V/E | 127 | rs1490418231 | 0.3627 | None | gnomAD-2.1.1 | 8.02E-06 | |
10038 | 50 | V/L | 127 | None | 0.3627 | None | gnomAD-4.0.0 | 1.59088E-06 | |
10039 | 51 | E/K | 130 | None | 0.8351 | None | gnomAD-4.0.0 | 1.36828E-06 | |
10040 | 52 | H/Y | 131 | None | 0.6234 | None | gnomAD-4.0.0 | 3.60097E-06 | |
10041 | 53 | K/E | 134 | None | 0.1768 | None | gnomAD-4.0.0 | 1.59087E-06 | |
10041 | 53 | K/T | 134 | None | 0.1768 | None | gnomAD-4.0.0 | 1.20032E-06 | |
10042 | 54 | V/F | 135 | None | 0.2922 | None | gnomAD-4.0.0 | 6.84139E-07 | |
10042 | 54 | V/L | 135 | None | 0.2922 | None | gnomAD-4.0.0 | 6.84139E-07 | |
10043 | 55 | H/R | 136 | None | 0.1292 | None | gnomAD-4.0.0 | 4.77262E-06 | |
10043 | 55 | H/Y | 136 | rs989692401 | 0.1292 | None | gnomAD-2.1.1 | 4.01E-06 | |
10043 | 55 | H/Y | 136 | rs989692401 | 0.1292 | None | gnomAD-4.0.0 | 1.59089E-06 | |
10045 | 57 | L/W | 138 | rs776484795 | 0.0886 | None | gnomAD-3.1.2 | 6.57E-06 | |
10045 | 57 | L/W | 138 | rs776484795 | 0.0886 | None | gnomAD-4.0.0 | 3.04479E-06 | |
10046 | 58 | T/A | 139 | rs768446273 | 0.2149 | None | gnomAD-2.1.1 | 4.01E-06 | |
10046 | 58 | T/I | 139 | rs535268419 | 0.2149 | None | gnomAD-2.1.1 | 2.81E-05 | |
10046 | 58 | T/I | 139 | rs535268419 | 0.2149 | None | gnomAD-3.1.2 | 6.57E-06 | |
10046 | 58 | T/I | 139 | rs535268419 | 0.2149 | None | 1000 genomes | 1.99681E-04 | |
10046 | 58 | T/I | 139 | rs535268419 | 0.2149 | None | gnomAD-4.0.0 | 9.29383E-06 | |
10047 | 59 | I/T | 140 | rs1468010768 | 0.0938 | None | gnomAD-4.0.0 | 7.20193E-06 | |
10048 | 60 | A/T | 141 | None | 0.3055 | None | gnomAD-4.0.0 | 1.20032E-06 | |
10049 | 61 | D/G | 143 | rs2075487390 | 0.3489 | None | gnomAD-4.0.0 | 2.05243E-06 | |
10051 | 63 | R/P | 145 | rs772291213 | 0.3016 | None | gnomAD-2.1.1 | 8.02E-06 | |
10051 | 63 | R/P | 145 | rs772291213 | 0.3016 | None | gnomAD-4.0.0 | 1.3683E-06 | |
10051 | 63 | R/Q | 145 | None | 0.3016 | None | gnomAD-2.1.1 | 1.6E-05 | |
10051 | 63 | R/Q | 145 | None | 0.3016 | None | gnomAD-3.1.2 | 1.31E-05 | |
10051 | 63 | R/Q | 145 | None | 0.3016 | None | gnomAD-4.0.0 | 9.29475E-06 | |
10052 | 64 | A/G | 146 | None | 0.4473 | None | gnomAD-4.0.0 | 1.20032E-06 | |
10052 | 64 | A/T | 146 | rs746145079 | 0.4473 | None | gnomAD-2.1.1 | 8.02E-06 | |
10052 | 64 | A/T | 146 | rs746145079 | 0.4473 | None | gnomAD-4.0.0 | 4.10488E-06 | |
10055 | 67 | Q/H | 151 | rs1560511850 | 0.4561 | None | gnomAD-2.1.1 | 4.01E-06 | |
10055 | 67 | Q/H | 151 | rs1560511850 | 0.4561 | None | gnomAD-4.0.0 | 1.59092E-06 | |
10056 | 68 | G/C | 152 | rs794729401 | 0.1760 | None | gnomAD-4.0.0 | 3.18184E-06 | |
10056 | 68 | G/S | 152 | None | 0.1760 | None | gnomAD-2.1.1 | 4.01E-06 | |
10056 | 68 | G/S | 152 | None | 0.1760 | None | gnomAD-4.0.0 | 1.59092E-06 | |
10057 | 69 | Q/P | 153 | None | 0.4967 | None | gnomAD-4.0.0 | 4.10489E-06 | |
10057 | 69 | Q/R | 153 | rs2075483683 | 0.4967 | None | gnomAD-4.0.0 | 6.84148E-07 | |
10061 | 73 | K/E | 157 | rs184153985 | 0.2676 | None | gnomAD-4.0.0 | 1.36831E-06 | |
10061 | 73 | K/I | 157 | None | 0.2676 | None | gnomAD-4.0.0 | 1.20032E-06 | |
10061 | 73 | K/Q | 157 | rs184153985 | 0.2676 | None | gnomAD-2.1.1 | 1.49662E-04 | |
10061 | 73 | K/Q | 157 | rs184153985 | 0.2676 | None | gnomAD-3.1.2 | 4.59831E-04 | |
10061 | 73 | K/Q | 157 | rs184153985 | 0.2676 | None | 1000 genomes | 5.99042E-04 | |
10061 | 73 | K/Q | 157 | rs184153985 | 0.2676 | None | gnomAD-4.0.0 | 7.43492E-05 | |
10062 | 74 | Y/F | 158 | rs2075481776 | 0.2067 | None | gnomAD-3.1.2 | 6.57E-06 | |
10062 | 74 | Y/F | 158 | rs2075481776 | 0.2067 | None | gnomAD-4.0.0 | 6.56883E-06 | |
10062 | 74 | Y/H | 158 | None | 0.2067 | None | gnomAD-4.0.0 | 1.20032E-06 | |
10064 | 76 | D/Y | 161 | None | 1.0413 | None | gnomAD-4.0.0 | 1.36833E-06 | |
10066 | 78 | E/Q | 168 | rs370072382 | 0.5722 | None | gnomAD-2.1.1 | 1.61E-05 | |
10066 | 78 | E/Q | 168 | rs370072382 | 0.5722 | None | gnomAD-3.1.2 | 6.57E-06 | |
10066 | 78 | E/Q | 168 | rs370072382 | 0.5722 | None | gnomAD-4.0.0 | 6.94E-05 | |
10068 | 80 | S/L | 171 | rs756434866 | 0.3249 | None | gnomAD-2.1.1 | 4.01E-06 | |
10068 | 80 | S/L | 171 | rs756434866 | 0.3249 | None | gnomAD-4.0.0 | 4.77351E-06 | |
10068 | 80 | S/T | 171 | rs1410740071 | 0.3249 | None | gnomAD-2.1.1 | 4.01E-06 | |
10068 | 80 | S/T | 171 | rs1410740071 | 0.3249 | None | gnomAD-4.0.0 | 5.47342E-06 | |
10069 | 81 | A/E | 172 | None | 0.1235 | None | gnomAD-4.0.0 | 2.40064E-06 | |
10069 | 81 | A/T | 172 | rs1167245039 | 0.1235 | None | gnomAD-3.1.2 | 1.31E-05 | |
10069 | 81 | A/T | 172 | rs1167245039 | 0.1235 | None | gnomAD-4.0.0 | 1.31404E-05 | |
10070 | 82 | E/D | 173 | None | 0.3635 | None | gnomAD-4.0.0 | 6.84234E-07 | |
10071 | 83 | L/R | 174 | rs879001616 | 0.1215 | None | gnomAD-4.0.0 | 3.18278E-06 | |
10073 | 85 | I/V | 176 | None | 0.2036 | None | gnomAD-4.0.0 | 1.59158E-06 | |
10074 | 86 | E/A | 178 | rs1441211227 | 0.6507 | None | gnomAD-2.1.1 | 4.02E-06 | |
10074 | 86 | E/A | 178 | rs1441211227 | 0.6507 | None | gnomAD-4.0.0 | 3.18376E-06 | |
10074 | 86 | E/D | 178 | None | 0.6507 | None | gnomAD-4.0.0 | 1.20032E-06 | |
10074 | 86 | E/K | 178 | rs794729402 | 0.6507 | None | gnomAD-2.1.1 | 7.14E-06 | |
10074 | 86 | E/K | 178 | rs794729402 | 0.6507 | None | gnomAD-3.1.2 | 1.31E-05 | |
10074 | 86 | E/K | 178 | rs794729402 | 0.6507 | None | gnomAD-4.0.0 | 1.36355E-05 |