Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519771 | 1.000 | 0.080 | 9 | 130872201 | missense variant | G/C | snv | 2 | |||
rs762807774 | 1.000 | 0.040 | 1 | 1228495 | frameshift variant | CGCGGCTCCGC/-;CGCGGCTCCGCCGCGGCTCCGC | delins | 7.0E-06 | 2 | ||
rs200863613 | 0.925 | 0.080 | 9 | 21971061 | missense variant | C/A;T | snv | 8.5E-05 | 3.7E-04 | 6 | |
rs11672691 | 0.925 | 0.080 | 19 | 41479679 | non coding transcript exon variant | G/A | snv | 0.42 | 3 | ||
rs55958994 | 0.925 | 0.080 | 12 | 52907235 | intron variant | C/T | snv | 0.12 | 3 | ||
rs1443465532 | 0.882 | 0.080 | 6 | 43774362 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 6 | |
rs7121 | 0.882 | 0.160 | 20 | 58903752 | missense variant | C/G;T | snv | 0.54 | 6 | ||
rs773862672 | 0.882 | 0.280 | 1 | 11247922 | missense variant | G/A;C | snv | 1.2E-05 | 6 | ||
rs1288373809 | 0.882 | 0.120 | 17 | 7673255 | synonymous variant | G/A | snv | 5.3E-06 | 5 | ||
rs438034 | 0.882 | 0.120 | 1 | 214657274 | stop gained | A/G;T | snv | 0.61 | 4 | ||
rs1418810723 | 0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 | 9 | ||
rs767808984 | 0.851 | 0.160 | 14 | 36520098 | missense variant | C/G;T | snv | 1.3E-05 | 9 | ||
rs587782529 | 0.851 | 0.200 | 17 | 7670700 | missense variant | G/A;C | snv | 8 | |||
rs201216664 | 0.851 | 0.080 | 17 | 51171503 | missense variant | A/G | snv | 5 | |||
rs1284806277 | 0.827 | 0.200 | 14 | 102251978 | missense variant | A/G | snv | 1.4E-05 | 13 | ||
rs104893626 | 0.827 | 0.280 | 2 | 136114915 | stop gained | G/C | snv | 11 | |||
rs137852578 | 0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv | 10 | |||
rs3136797 | 0.827 | 0.120 | 8 | 42369287 | missense variant | C/G | snv | 1.1E-02 | 1.1E-02 | 10 | |
rs1285136498 | 0.807 | 0.080 | 5 | 143400101 | missense variant | G/A | snv | 13 | |||
rs367597251 | 0.807 | 0.080 | 12 | 68839587 | missense variant | A/G | snv | 1.5E-04 | 5.1E-04 | 10 | |
rs4987188 | 0.790 | 0.200 | 2 | 47416318 | missense variant | G/A;T | snv | 1.3E-02; 2.0E-05 | 11 | ||
rs121917887 | 0.790 | 0.120 | 17 | 51161744 | missense variant | A/G | snv | 6.0E-05 | 7.0E-05 | 10 | |
rs17217772 | 0.790 | 0.240 | 2 | 47410107 | missense variant | A/C;G;T | snv | 5.8E-03 | 10 | ||
rs2016347 | 0.790 | 0.160 | 15 | 98960571 | 3 prime UTR variant | G/A;T | snv | 9 | |||
rs11568818 | 0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv | 15 |