Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1052571 | 0.882 | 0.080 | 1 | 15524118 | missense variant | G/A | snv | 0.50 | 0.59 | 4 | |
rs11096955 | 0.851 | 0.200 | 4 | 38774486 | missense variant | T/C;G | snv | 4.3E-06; 0.41 | 5 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1274867386 | 1.000 | 0.040 | 10 | 123150118 | missense variant | T/A | snv | 7.0E-06 | 1 | ||
rs1387153 | 0.807 | 0.200 | 11 | 92940662 | downstream gene variant | C/G;T | snv | 10 | |||
rs17173510 | 1.000 | 0.040 | 21 | 34449551 | synonymous variant | C/G;T | snv | 4.0E-06; 3.6E-03 | 6.6E-03 | 1 | |
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs1800587 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 43 | ||
rs1800629 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 169 | |
rs1801131 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 93 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs1801274 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 46 | ||
rs1801394 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 101 | |
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs1805127 | 0.732 | 0.240 | 21 | 34449523 | missense variant | T/C | snv | 0.64 | 2.0E-04 | 17 | |
rs2075575 | 0.851 | 0.200 | 18 | 26866562 | intron variant | G/A | snv | 0.31 | 5 | ||
rs2234688 | 1.000 | 0.040 | 12 | 68158742 | intron variant | -/G;TGAG;TGG;TGTGG;TGTGTGAG;TGTGTGG;TGTGTGTGG | delins | 1 | |||
rs2234693 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 77 | ||
rs2288904 | 0.807 | 0.240 | 19 | 10631494 | missense variant | A/G | snv | 0.80 | 0.83 | 8 | |
rs2682826 | 0.807 | 0.280 | 12 | 117215033 | 3 prime UTR variant | G/A | snv | 0.25 | 11 | ||
rs28357984 | 0.851 | 0.160 | MT | 5178 | missense variant | C/A | snv | 6 | |||
rs3087969 | 1.000 | 0.040 | 19 | 10627963 | missense variant | C/G;T | snv | 4.0E-06; 0.79 | 1 | ||
rs3736309 | 0.925 | 0.120 | 12 | 49964271 | intron variant | A/G | snv | 0.12 | 2 | ||
rs3746951 | 1.000 | 0.040 | 21 | 43426136 | missense variant | C/A;T | snv | 0.23 | 1 | ||
rs3840634 | 0.925 | 0.120 | 7 | 116556798 | intron variant | T/C | snv | 2 |