Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs2234693 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 77 | ||
rs9340799 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 62 | ||
rs1800587 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 43 | ||
rs2682826 | 0.807 | 0.280 | 12 | 117215033 | 3 prime UTR variant | G/A | snv | 0.25 | 11 | ||
rs1387153 | 0.807 | 0.200 | 11 | 92940662 | downstream gene variant | C/G;T | snv | 10 | |||
rs28357984 | 0.851 | 0.160 | MT | 5178 | missense variant | C/A | snv | 6 | |||
rs41279104 | 0.827 | 0.160 | 12 | 117439680 | intron variant | C/T | snv | 0.11 | 6 | ||
rs2075575 | 0.851 | 0.200 | 18 | 26866562 | intron variant | G/A | snv | 0.31 | 5 | ||
rs4947296 | 0.851 | 0.440 | 6 | 31090401 | intergenic variant | T/A;C | snv | 5 | |||
rs77485247 | 0.925 | 0.080 | 18 | 24460578 | upstream gene variant | T/A | snv | 3 | |||
rs3736309 | 0.925 | 0.120 | 12 | 49964271 | intron variant | A/G | snv | 0.12 | 2 | ||
rs3840634 | 0.925 | 0.120 | 7 | 116556798 | intron variant | T/C | snv | 2 | |||
rs1274867386 | 1.000 | 0.040 | 10 | 123150118 | missense variant | T/A | snv | 7.0E-06 | 1 | ||
rs2234688 | 1.000 | 0.040 | 12 | 68158742 | intron variant | -/G;TGAG;TGG;TGTGG;TGTGTGAG;TGTGTGG;TGTGTGTGG | delins | 1 | |||
rs487119 | 1.000 | 0.040 | 2 | 40261737 | intron variant | G/A | snv | 0.54 | 1 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs17173510 | 1.000 | 0.040 | 21 | 34449551 | synonymous variant | C/G;T | snv | 4.0E-06; 3.6E-03 | 6.6E-03 | 1 | |
rs1801274 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 46 | ||
rs3087969 | 1.000 | 0.040 | 19 | 10627963 | missense variant | C/G;T | snv | 4.0E-06; 0.79 | 1 | ||
rs396991 | 0.742 | 0.480 | 1 | 161544752 | missense variant | A/C;G;T | snv | 0.33; 4.1E-06 | 14 | ||
rs11096955 | 0.851 | 0.200 | 4 | 38774486 | missense variant | T/C;G | snv | 4.3E-06; 0.41 | 5 | ||
rs4961 | 0.683 | 0.400 | 4 | 2904980 | missense variant | G/A;T | snv | 1.2E-05; 0.20 | 27 | ||
rs1800629 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 169 | |
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 |