Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs25489 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 78 | ||
rs2736100 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 83 | ||
rs7903146 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 93 | |||
rs1799793 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 72 | ||
rs1136410 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 70 | |
rs11615 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 62 | |
rs4938723 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 60 | ||
rs1801275 | 0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 | 58 | |
rs5275 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 55 | |||
rs17655 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 52 | |
rs2736098 | 0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 | 48 | |
rs12917 | 0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 | 45 | |
rs1138272 | 0.611 | 0.600 | 11 | 67586108 | missense variant | C/T | snv | 5.9E-02 | 5.5E-02 | 42 | |
rs3212986 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 42 | ||
rs397517132 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 48 | |||
rs4444903 | 0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 | 35 | ||
rs1045485 | 0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 | 34 | ||
rs2298881 | 0.653 | 0.400 | 19 | 45423658 | intron variant | C/A;T | snv | 25 | |||
rs2308321 | 0.653 | 0.480 | 10 | 129766800 | missense variant | A/G | snv | 9.3E-02 | 8.7E-02 | 29 | |
rs895520 | 0.689 | 0.320 | 2 | 100961475 | intron variant | G/A | snv | 0.35 | 23 | ||
rs10165970 | 0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 | 18 | ||
rs10519097 | 0.708 | 0.320 | 15 | 60997989 | intron variant | C/T | snv | 0.13 | 18 | ||
rs11196172 | 0.708 | 0.200 | 10 | 112967084 | intron variant | G/A | snv | 0.13 | 18 | ||
rs11943456 | 0.708 | 0.320 | 4 | 55410167 | intron variant | T/C | snv | 0.42 | 18 | ||
rs17024869 | 0.708 | 0.320 | 2 | 100843581 | intron variant | T/C | snv | 8.3E-02 | 18 |