Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs200595749 | 0.925 | 0.080 | 14 | 67766404 | missense variant | C/T | snv | 8.8E-05 | 9.1E-05 | 2 | |
rs12546444 | 1.000 | 0.080 | 8 | 105346392 | intron variant | A/T | snv | 8.0E-02 | 1 | ||
rs1381855646 | 0.925 | 0.080 | 16 | 72959537 | synonymous variant | G/A | snv | 2 | |||
rs73176670 | 1.000 | 0.080 | 22 | 41323244 | intron variant | C/T | snv | 4.2E-02 | 1 | ||
rs4951011 | 0.925 | 0.080 | 1 | 203797203 | 5 prime UTR variant | A/G | snv | 0.14 | 2 | ||
rs59867004 | 1.000 | 0.080 | 1 | 203832121 | intron variant | T/C | snv | 0.25 | 1 | ||
rs34207738 | 1.000 | 0.080 | 3 | 141394018 | intron variant | TTT/-;T;TT;TTTT;TTTTT | delins | 1 | |||
rs145204276 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 31 | ||
rs34119086 | 1.000 | 0.080 | 6 | 28594471 | intron variant | G/- | delins | 5.1E-02 | 1 | ||
rs16943468 | 0.925 | 0.080 | 17 | 59367748 | intron variant | T/C | snv | 0.12 | 2 | ||
rs2304098 | 1.000 | 0.080 | 19 | 19535463 | intron variant | T/C | snv | 0.39 | 0.43 | 1 | |
rs3747093 | 0.732 | 0.200 | 22 | 21630090 | upstream gene variant | G/A | snv | 0.32 | 16 | ||
rs1820453 | 0.925 | 0.080 | 11 | 102109604 | non coding transcript exon variant | C/A | snv | 0.54 | 2 | ||
rs61746398 | 0.925 | 0.080 | 11 | 102205922 | missense variant | C/T | snv | 5.4E-04 | 7.0E-04 | 2 | |
rs1802904 | 0.925 | 0.080 | 3 | 142449489 | synonymous variant | C/T | snv | 0.86 | 0.89 | 2 | |
rs5751129 | 0.752 | 0.320 | 22 | 41619761 | intron variant | C/T | snv | 0.69 | 14 | ||
rs132788 | 0.925 | 0.080 | 22 | 41663764 | synonymous variant | G/A;T | snv | 8.0E-05; 0.29 | 2 | ||
rs73161324 | 1.000 | 0.080 | 22 | 41642782 | intron variant | C/T | snv | 3.9E-02 | 1 | ||
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 | ||
rs828907 | 0.827 | 0.160 | 2 | 216108009 | intron variant | G/T | snv | 0.37 | 6 | ||
rs3835 | 0.882 | 0.120 | 2 | 216201914 | intron variant | G/A | snv | 0.21 | 4 | ||
rs6869366 | 0.701 | 0.280 | 5 | 83075927 | intron variant | T/G | snv | 9.2E-02 | 18 | ||
rs1805377 | 0.689 | 0.480 | 5 | 83353124 | splice acceptor variant | G/A | snv | 0.23 | 0.25 | 19 | |
rs3734091 | 0.689 | 0.280 | 5 | 83204915 | missense variant | G/T | snv | 2.3E-02 | 1.4E-02 | 19 |