Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs7973260 | 0.851 | 0.120 | 12 | 117937681 | intron variant | A/G | snv | 0.83 | 7 | ||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs760161369 | 0.882 | 0.040 | 1 | 11800214 | missense variant | G/A;C | snv | 2.8E-05; 4.0E-06 | 3 | ||
rs2017122 | 0.925 | 0.040 | 11 | 118444134 | intron variant | C/T | snv | 4.0E-02 | 2 | ||
rs6771023 | 0.882 | 0.040 | 3 | 119974764 | intron variant | T/C | snv | 0.22 | 3 | ||
rs2199503 | 0.851 | 0.080 | 3 | 120059642 | intron variant | T/C | snv | 0.79 | 4 | ||
rs334535 | 0.882 | 0.040 | 3 | 120073457 | intron variant | C/T | snv | 0.29 | 3 | ||
rs334558 | 0.701 | 0.320 | 3 | 120094435 | upstream gene variant | A/G | snv | 0.51 | 20 | ||
rs796590326 | 0.851 | 0.200 | 12 | 121162449 | missense variant | GT/AC | mnv | 5 | |||
rs208294 | 0.790 | 0.320 | 12 | 121162450 | missense variant | T/A;C;G | snv | 0.51 | 9 | ||
rs2230912 | 0.752 | 0.280 | 12 | 121184393 | missense variant | A/G | snv | 0.13 | 0.12 | 16 | |
rs201921722 | 0.925 | 0.040 | 11 | 123679999 | downstream gene variant | -/A | delins | 9.2E-06 | 3 | ||
rs12278912 | 0.882 | 0.040 | 11 | 124742263 | intron variant | G/A | snv | 0.33 | 3 | ||
rs7189979 | 0.925 | 0.040 | 16 | 12536330 | intron variant | A/C;G;T | snv | 3 | |||
rs11728985 | 0.925 | 0.040 | 4 | 129115280 | 3 prime UTR variant | C/T | snv | 0.12 | 3 | ||
rs772335034 | 1.000 | 0.040 | 12 | 132618851 | missense variant | C/A | snv | 9.6E-06 | 1 | ||
rs2221540 | 0.925 | 0.040 | 11 | 132846474 | intron variant | A/G | snv | 0.11 | 2 | ||
rs40184 | 0.851 | 0.120 | 5 | 1394962 | intron variant | C/T | snv | 0.45 | 5 | ||
rs201569130 | 0.925 | 0.040 | 6 | 1402916 | intergenic variant | GACA/- | delins | 1.1E-02 | 3 | ||
rs142484554 | 0.925 | 0.040 | 3 | 141059454 | intron variant | GAG/- | delins | 0.11 | 3 | ||
rs190783615 | 0.925 | 0.040 | X | 142772620 | intergenic variant | T/C | snv | 9.3E-03 | 3 | ||
rs41423247 | 0.695 | 0.440 | 5 | 143399010 | intron variant | G/C | snv | 0.31 | 23 | ||
rs6195 | 0.807 | 0.120 | 5 | 143399752 | missense variant | T/A;C | snv | 6 | |||
rs11155372 | 0.925 | 0.040 | 6 | 144698602 | intron variant | G/C;T | snv | 3 |