Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs61005944 | 1.000 | 0.080 | 1 | 224217786 | upstream gene variant | TTT/-;TT;TTTT;TTTTT;TTTTTT | delins | 1 | |||
rs34579442 | 1.000 | 0.080 | 1 | 153927425 | intron variant | TTT/-;T;TT;TTTT;TTTTTTTTTTT | delins | 1 | |||
rs533722308 | 1.000 | 0.080 | 18 | 63293961 | intron variant | TT/-;T;TTT;TTTT;TTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTTTT | delins | 1 | |||
rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 119 | ||
rs1801131 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 93 | |
rs3212227 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 65 | ||
rs2279744 | 0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 | 48 | ||
rs1946518 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 46 | ||
rs20576 | 0.637 | 0.400 | 8 | 23200707 | missense variant | T/G | snv | 0.15 | 0.14 | 34 | |
rs11556218 | 0.653 | 0.600 | 15 | 81305928 | missense variant | T/G | snv | 9.6E-02 | 0.12 | 27 | |
rs238406 | 0.677 | 0.480 | 19 | 45365051 | synonymous variant | T/G | snv | 0.58 | 0.65 | 23 | |
rs7931342 | 0.689 | 0.360 | 11 | 69227030 | intergenic variant | T/G | snv | 0.58 | 20 | ||
rs6869366 | 0.701 | 0.280 | 5 | 83075927 | intron variant | T/G | snv | 9.2E-02 | 18 | ||
rs11119608 | 0.708 | 0.280 | 1 | 210816167 | intron variant | T/G | snv | 0.21 | 17 | ||
rs11096957 | 0.790 | 0.160 | 4 | 38774870 | missense variant | T/G | snv | 0.42 | 0.41 | 8 | |
rs10432782 | 0.807 | 0.160 | 21 | 31664078 | intron variant | T/G | snv | 0.19 | 7 | ||
rs3136534 | 0.807 | 0.240 | 4 | 122448621 | downstream gene variant | T/G | snv | 0.29 | 6 | ||
rs7008482 | 0.882 | 0.120 | 8 | 125255388 | intron variant | T/G | snv | 0.48 | 5 | ||
rs130067 | 0.851 | 0.200 | 6 | 31150734 | missense variant | T/G | snv | 0.23 | 0.21 | 4 | |
rs2297480 | 0.851 | 0.280 | 1 | 155309691 | non coding transcript exon variant | T/G | snv | 0.28 | 4 | ||
rs2705897 | 0.925 | 0.080 | 4 | 184631944 | splice region variant | T/G | snv | 0.64 | 0.73 | 4 | |
rs4148269 | 0.882 | 0.080 | 4 | 68647129 | missense variant | T/G | snv | 0.55 | 0.49 | 3 | |
rs10459592 | 0.925 | 0.080 | 15 | 51243944 | intron variant | T/G | snv | 0.49 | 2 |