Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs5443 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 106 | |
rs796052505 | 0.724 | 0.440 | 5 | 162095551 | missense variant | G/A;C | snv | 57 | |||
rs1553920379 | 0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins | 27 | |||
rs724159949 | 0.827 | 0.240 | 21 | 37486563 | stop gained | C/T | snv | 15 | |||
rs758946412 | 0.790 | 0.240 | X | 100407507 | frameshift variant | G/-;GG | delins | 12 | |||
rs2273697 | 0.776 | 0.360 | 10 | 99804058 | missense variant | G/A | snv | 0.19 | 0.19 | 11 | |
rs121909673 | 0.776 | 0.080 | 5 | 162093965 | missense variant | G/A | snv | 10 | |||
rs1567815105 | 0.807 | 0.240 | 16 | 57660794 | frameshift variant | -/T | delins | 7 | |||
rs200956636 | 0.925 | 0.280 | 15 | 55205623 | stop gained | G/A | snv | 6.8E-05 | 6.3E-05 | 5 | |
rs373363000 | 0.882 | 0.080 | 5 | 161686327 | missense variant | C/A;T | snv | 4.0E-06; 3.3E-04 | 3 | ||
rs63750634 | 0.925 | 0.120 | 14 | 73192843 | missense variant | T/G | snv | 3 | |||
rs60844753 | 0.925 | 0.160 | 1 | 112956453 | non coding transcript exon variant | G/A;C;T | snv | 2 |