Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6147150 | 0.827 | 0.160 | 2 | 211380365 | 3 prime UTR variant | -/AAAATAGGATTG | delins | 5 | |||
rs371194629 | 0.790 | 0.320 | 6 | 29830804 | 3 prime UTR variant | -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT | ins | 8 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs3783553 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 26 | |||
rs28381975 | 0.827 | 0.200 | 3 | 33798239 | intron variant | -/TTACGTACCTGTGCA;TTCCGTACCTGTGCA;TTTCGTACCTGTGCA | delins | 5 | |||
rs2239704 | 0.732 | 0.320 | 6 | 31572364 | 5 prime UTR variant | A/C | snv | 0.64 | 17 | ||
rs735482 | 0.742 | 0.160 | 19 | 45408744 | missense variant | A/C | snv | 0.21 | 0.20 | 16 | |
rs6568431 | 0.790 | 0.320 | 6 | 106140931 | intron variant | A/C | snv | 0.61 | 7 | ||
rs12304647 | 0.807 | 0.160 | 12 | 53991163 | intron variant | A/C | snv | 0.26 | 6 | ||
rs2241715 | 0.851 | 0.120 | 19 | 41350981 | 5 prime UTR variant | A/C | snv | 0.68 | 4 | ||
rs9269081 | 0.851 | 0.280 | 6 | 32473323 | intron variant | A/C | snv | 0.69 | 4 | ||
rs422544 | 0.925 | 0.120 | 6 | 33058333 | regulatory region variant | A/C | snv | 0.30 | 2 | ||
rs4309483 | 0.925 | 0.120 | 18 | 58418685 | downstream gene variant | A/C | snv | 0.70 | 2 | ||
rs2856822 | 1.000 | 0.080 | 6 | 33079655 | non coding transcript exon variant | A/C | snv | 0.41 | 1 | ||
rs3135402 | 1.000 | 0.080 | 6 | 33056877 | regulatory region variant | A/C | snv | 0.35 | 1 | ||
rs2723176 | 0.851 | 0.200 | 2 | 112914932 | intron variant | A/C;G | snv | 4 | |||
rs2395535 | 1.000 | 0.080 | 6 | 32689574 | TF binding site variant | A/C;G | snv | 1 | |||
rs3179779 | 1.000 | 0.080 | 6 | 33068192 | 3 prime UTR variant | A/C;G | snv | 1 | |||
rs9469341 | 1.000 | 0.080 | 6 | 33068100 | 3 prime UTR variant | A/C;G | snv | 1 | |||
rs9530614 | 1.000 | 0.080 | 13 | 76953572 | intron variant | A/C;G | snv | 6.7E-06; 0.47 | 1 | ||
rs3024490 | 0.742 | 0.520 | 1 | 206771966 | intron variant | A/C;G;T | snv | 11 | |||
rs3130779 | 0.925 | 0.080 | 6 | 30904426 | upstream gene variant | A/C;G;T | snv | 5 | |||
rs7041 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 64 | ||
rs179008 | 0.763 | 0.360 | X | 12885540 | missense variant | A/C;T | snv | 0.18 | 0.18 | 14 | |
rs2524060 | 0.925 | 0.120 | 6 | 31299645 | intron variant | A/C;T | snv | 2 |