Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs35761398 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 19 | |||
rs4077515 | 0.763 | 0.360 | 9 | 136372044 | missense variant | C/A;T | snv | 4.0E-06; 0.41 | 11 | ||
rs5029939 | 0.701 | 0.440 | 6 | 137874586 | intron variant | C/G | snv | 0.13 | 19 | ||
rs745738344 | 0.653 | 0.600 | 6 | 31576786 | synonymous variant | G/A | snv | 1.6E-05 | 1.4E-05 | 28 | |
rs7517847 | 0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 | 19 | ||
rs762513613 | 0.752 | 0.280 | 1 | 161591315 | missense variant | A/G | snv | 4.2E-06 | 7.4E-06 | 11 | |
rs763780 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 87 | |
rs77375493 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 187 | ||
rs80338835 | 0.925 | 0.200 | 22 | 36282754 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 3 | |
rs879761216 | 0.732 | 0.480 | 1 | 23875429 | frameshift variant | TT/C;T | delins | 14 |