Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 | |
rs3803662 | 0.662 | 0.440 | 16 | 52552429 | non coding transcript exon variant | A/G | snv | 0.63 | 25 | ||
rs4135385 | 0.742 | 0.320 | 3 | 41237949 | non coding transcript exon variant | A/G | snv | 0.19 | 14 | ||
rs4648068 | 0.790 | 0.240 | 4 | 102597148 | intron variant | A/G | snv | 0.31 | 9 | ||
rs4880 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 131 | |
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 99 | |
rs5742612 | 0.752 | 0.440 | 12 | 102481086 | intron variant | A/G | snv | 5.6E-02 | 11 | ||
rs731236 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 81 | |
rs744166 | 0.689 | 0.560 | 17 | 42362183 | intron variant | A/G | snv | 0.48 | 22 | ||
rs937283 | 0.716 | 0.200 | 12 | 68808384 | 5 prime UTR variant | A/G | snv | 0.37 | 19 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs10719 | 0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 | 24 | ||
rs17664 | 0.882 | 0.120 | 2 | 172504503 | 3 prime UTR variant | A/G;T | snv | 4 | |||
rs230310 | 0.925 | 0.080 | 1 | 39842047 | intron variant | A/G;T | snv | 3 | |||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs3834129 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 38 | ||
rs10889677 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 40 | ||
rs16260 | 0.716 | 0.440 | 16 | 68737131 | upstream gene variant | C/A | snv | 0.24 | 19 | ||
rs1800630 | 0.701 | 0.480 | 6 | 31574699 | upstream gene variant | C/A | snv | 0.14 | 17 | ||
rs184003 | 0.724 | 0.400 | 6 | 32182519 | intron variant | C/A | snv | 0.12 | 0.12 | 15 | |
rs2736100 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 83 | ||
rs889312 | 0.732 | 0.360 | 5 | 56736057 | regulatory region variant | C/A | snv | 0.69 | 14 | ||
rs4245739 | 0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 | 21 | ||
rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 144 | ||
rs3212986 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 42 |