Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs14259 | 0.724 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 4.0E-06; 0.32 | 19 | ||
rs5569 | 0.742 | 0.280 | 16 | 55697923 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 | 19 | ||
rs765798193 | 0.732 | 0.320 | 12 | 121915884 | frameshift variant | G/-;GG | delins | 18 | |||
rs1044396 | 0.742 | 0.240 | 20 | 63349782 | missense variant | G/A;C | snv | 0.47; 6.1E-05 | 17 | ||
rs2077647 | 0.732 | 0.320 | 6 | 151807942 | synonymous variant | T/A;C | snv | 8.1E-06; 0.46 | 16 | ||
rs6354 | 0.732 | 0.280 | 17 | 30222880 | 5 prime UTR variant | G/C;T | snv | 16 | |||
rs1043307 | 0.776 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 14 | |||
rs3825172 | 0.776 | 0.360 | 12 | 121902569 | non coding transcript exon variant | C/G;T | snv | 14 | |||
rs9470080 | 0.827 | 0.080 | 6 | 35678658 | intron variant | T/A;C | snv | 13 | |||
rs11932595 | 0.827 | 0.160 | 4 | 55457430 | intron variant | A/G;T | snv | 12 | |||
rs2298383 | 0.827 | 0.200 | 22 | 24429543 | non coding transcript exon variant | C/A;T | snv | 11 | |||
rs397515453 | 0.752 | 0.440 | 5 | 68296301 | missense variant | C/T | snv | 11 | |||
rs4713916 | 0.790 | 0.160 | 6 | 35702206 | intron variant | A/C;G;T | snv | 11 | |||
rs75634836 | 0.807 | 0.160 | 13 | 46835532 | missense variant | C/A;T | snv | 4.0E-06 | 11 | ||
rs797045032 | 0.827 | 0.280 | 7 | 143321720 | missense variant | GG/TC | mnv | 11 | |||
rs1417938 | 0.776 | 0.320 | 1 | 159714396 | intron variant | T/A;C | snv | 0.28 | 10 | ||
rs2020936 | 0.776 | 0.160 | 17 | 30223796 | intron variant | G/A;C | snv | 10 | |||
rs2070951 | 0.776 | 0.320 | 4 | 148436862 | splice region variant | G/A;C | snv | 4.2E-06; 0.53 | 9 | ||
rs2242446 | 0.776 | 0.080 | 16 | 55656513 | 5 prime UTR variant | C/A;T | snv | 9 | |||
rs3093077 | 0.827 | 0.200 | 1 | 159709846 | upstream gene variant | A/C;G;T | snv | 9 | |||
rs397514679 | 0.790 | 0.200 | X | 47574321 | stop gained | G/A | snv | 9 | |||
rs6267 | 0.827 | 0.200 | 22 | 19962740 | missense variant | G/A;T | snv | 4.8E-05; 1.4E-02 | 9 | ||
rs2514259 | 0.807 | 0.280 | 11 | 67479201 | upstream gene variant | C/G;T | snv | 8 | |||
rs7305115 | 0.807 | 0.200 | 12 | 71979082 | synonymous variant | A/C;G;T | snv | 4.0E-06; 0.56 | 8 | ||
rs763201736 | 0.807 | 0.200 | 16 | 55498391 | missense variant | C/T | snv | 4.0E-06 | 8 |