Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10399805 | 0.851 | 0.240 | 1 | 203186870 | upstream gene variant | G/A;T | snv | 7 | |||
rs6691378 | 0.882 | 0.160 | 1 | 203187994 | upstream gene variant | G/A | snv | 0.19 | 6 | ||
rs10900598 | 0.882 | 0.120 | 1 | 204556440 | 3 prime UTR variant | G/C;T | snv | 0.38 | 4 | ||
rs708111 | 0.882 | 0.120 | 1 | 228003664 | upstream gene variant | G/A | snv | 0.48 | 4 | ||
rs2292566 | 1.000 | 0.080 | 1 | 225831952 | synonymous variant | G/A | snv | 2 | |||
rs3834129 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 38 | ||
rs13010627 | 0.807 | 0.280 | 2 | 201209375 | missense variant | G/A | snv | 4.2E-02 | 4.3E-02 | 10 | |
rs11685387 | 0.776 | 0.240 | 2 | 216109091 | splice region variant | C/T | snv | 0.30 | 9 | ||
rs9288518 | 0.776 | 0.240 | 2 | 216196997 | intron variant | A/G | snv | 0.35 | 9 | ||
rs6547741 | 0.807 | 0.080 | 2 | 27633057 | intron variant | G/A | snv | 0.53 | 7 | ||
rs828907 | 0.827 | 0.160 | 2 | 216108009 | intron variant | G/T | snv | 0.37 | 6 | ||
rs1045487 | 1.000 | 0.080 | 2 | 201284973 | synonymous variant | G/A | snv | 9.5E-02 | 0.10 | 2 | |
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs1799864 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 68 | |
rs3816527 | 0.882 | 0.160 | 3 | 157437525 | missense variant | C/A | snv | 0.64 | 0.64 | 9 | |
rs1208415127 | 0.827 | 0.160 | 3 | 50331654 | missense variant | G/A | snv | 4.0E-06 | 6 | ||
rs9879992 | 0.882 | 0.120 | 3 | 119993874 | intron variant | A/G | snv | 0.28 | 4 | ||
rs2120243 | 0.925 | 0.200 | 3 | 157429779 | intron variant | A/C | snv | 0.59 | 3 | ||
rs9849237 | 1.000 | 0.080 | 3 | 2633505 | intron variant | C/T | snv | 0.25 | 3 | ||
rs11130760 | 1.000 | 0.080 | 3 | 60210809 | intron variant | G/T | snv | 0.12 | 2 | ||
rs771266873 | 1.000 | 0.080 | 3 | 39098828 | missense variant | G/A;C | snv | 2 | |||
rs1229984 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 83 | ||
rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 | |||
rs3775291 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 51 | ||
rs4696480 | 0.716 | 0.400 | 4 | 153685974 | intron variant | T/A | snv | 0.45 | 19 |