Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs4986791 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 182 | |
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 | |
rs3789243 | 0.776 | 0.120 | 7 | 87591570 | intron variant | A/G | snv | 0.50 | 14 | ||
rs17375018 | 0.790 | 0.360 | 1 | 67189464 | intron variant | G/A | snv | 0.29 | 7 | ||
rs5743611 | 0.807 | 0.160 | 4 | 38798593 | missense variant | C/G | snv | 6.9E-02 | 7.1E-02 | 7 | |
rs1545620 | 0.827 | 0.080 | 19 | 17192965 | missense variant | T/A;G | snv | 1.3E-05; 0.52 | 6 | ||
rs1466065840 | 1.000 | 0.040 | 16 | 50712168 | frameshift variant | C/- | del | 1 | |||
rs749720540 | 1.000 | 0.040 | 16 | 50712168 | missense variant | C/A;G;T | snv | 4.0E-06; 5.6E-05 | 1 |