Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs147680216 | 0.742 | 0.160 | 2 | 218890244 | missense variant | G/A | snv | 2.1E-03 | 6.9E-04 | 11 | |
rs144078282 | 0.776 | 0.400 | 11 | 72302339 | missense variant | T/A;C | snv | 1.8E-04; 2.0E-04 | 9 | ||
rs200203460 | 0.776 | 0.400 | 11 | 72302312 | stop gained | G/A;C;T | snv | 2.8E-05 | 9 | ||
rs1173679499 | 0.827 | 0.280 | 3 | 189869372 | missense variant | G/A | snv | 4.0E-06 | 5 | ||
rs132630321 | 0.851 | 0.120 | X | 70035446 | missense variant | C/T | snv | 5.5E-06 | 9.6E-06 | 4 | |
rs1033252267 | 0.882 | 0.200 | 2 | 203729681 | missense variant | G/T | snv | 3 | |||
rs137853327 | 0.882 | 0.160 | X | 154564418 | missense variant | A/T | snv | 3 | |||
rs104894281 | 0.882 | 0.320 | 11 | 119677734 | stop gained | C/T | snv | 3 | |||
rs387907197 | 0.925 | 0.080 | X | 70033430 | missense variant | C/T | snv | 2 | |||
rs28933100 | 0.925 | 0.120 | 14 | 35404550 | missense variant | C/A;T | snv | 2 | |||
rs1553275192 | 0.925 | 0.080 | 1 | 201316692 | stop gained | C/T | snv | 2 | |||
rs1553445945 | 1.000 | 0.080 | 2 | 108912677 | splice donor variant | C/T | snv | 1 | |||
rs56240927 | 1.000 | 0.080 | 4 | 1804906 | missense variant | C/T | snv | 1.3E-03 | 8.2E-04 | 1 | |
rs4797100 | 1.000 | 0.080 | 18 | 3138555 | intron variant | A/G | snv | 0.25 | 1 | ||
rs763088741 | 1.000 | 0.080 | 14 | 36676439 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs9284390 | 1.000 | 0.080 | 18 | 112535 | non coding transcript exon variant | G/A;C;T | snv | 1 |