Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1439112 | 0.851 | 0.160 | 2 | 134305027 | intron variant | G/A | snv | 0.61 | 4 | ||
rs149207840 | 0.851 | 0.160 | 2 | 230279864 | intron variant | CTGCCTC/-;CTGCCTCCTGCCTC | delins | 0.15 | 4 | ||
rs3755397 | 0.925 | 0.120 | 2 | 241355498 | upstream gene variant | A/G | snv | 6.8E-02 | 4 | ||
rs6546149 | 0.851 | 0.160 | 2 | 25406569 | intron variant | C/G | snv | 0.38 | 4 | ||
rs757978 | 0.851 | 0.200 | 2 | 241431686 | missense variant | C/A;T | snv | 4.1E-06; 9.3E-02 | 4 | ||
rs775623976 | 0.851 | 0.240 | 2 | 197402760 | missense variant | G/A;C | snv | 4.0E-06 | 4 | ||
rs3731714 | 0.882 | 0.200 | 2 | 201196097 | intron variant | C/T | snv | 0.22 | 3 | ||
rs13015798 | 0.925 | 0.120 | 2 | 201044792 | intron variant | A/G | snv | 0.23 | 2 | ||
rs13401811 | 0.925 | 0.120 | 2 | 110858527 | intron variant | G/A | snv | 0.19 | 2 | ||
rs1439287 | 0.925 | 0.120 | 2 | 111114320 | non coding transcript exon variant | G/A | snv | 0.42 | 2 | ||
rs2396718 | 0.925 | 0.120 | 2 | 230179539 | intron variant | T/C | snv | 6.7E-02 | 2 | ||
rs34004493 | 0.925 | 0.120 | 2 | 230289297 | intron variant | A/G | snv | 0.19 | 2 | ||
rs3769825 | 0.925 | 0.120 | 2 | 201246657 | intron variant | A/G | snv | 0.46 | 2 | ||
rs3770745 | 0.925 | 0.120 | 2 | 37368946 | intron variant | C/T | snv | 0.43 | 2 | ||
rs58055674 | 0.925 | 0.120 | 2 | 111074216 | intron variant | T/C | snv | 0.13 | 2 | ||
rs755415626 | 0.925 | 0.200 | 2 | 197401887 | missense variant | C/T | snv | 7.0E-06 | 2 | ||
rs7558911 | 0.925 | 0.120 | 2 | 201159226 | intron variant | A/G;T | snv | 2 | |||
rs7578199 | 0.925 | 0.120 | 2 | 241253433 | missense variant | T/C;G | snv | 0.19; 8.4E-05 | 2 | ||
rs888096 | 0.925 | 0.120 | 2 | 37376658 | downstream gene variant | G/A | snv | 0.55 | 2 | ||
rs9308731 | 0.925 | 0.120 | 2 | 111150685 | intron variant | G/A | snv | 0.59 | 2 | ||
rs11688943 | 1.000 | 0.120 | 2 | 200875545 | intron variant | T/C | snv | 0.30 | 1 | ||
rs387907272 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 73 | |
rs10936599 | 0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 | 32 | |
rs568408 | 0.649 | 0.600 | 3 | 159995680 | 3 prime UTR variant | G/A | snv | 0.16 | 29 | ||
rs12638862 | 0.827 | 0.160 | 3 | 169759718 | downstream gene variant | A/G | snv | 0.24 | 10 |