Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs4880 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 131 | |
rs1353702185 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 79 | ||
rs11615 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 62 | |
rs2735839 | 0.827 | 0.160 | 19 | 50861367 | upstream gene variant | A/C;G | snv | 7 | |||
rs4054823 | 0.882 | 0.080 | 17 | 13721707 | intergenic variant | T/C | snv | 0.42 | 3 | ||
rs2394882 | 0.882 | 0.080 | 6 | 31164872 | splice region variant | A/C | snv | 0.64 | 0.69 | 3 | |
rs17503908 | 1.000 | 0.080 | 11 | 108344670 | intron variant | T/G | snv | 6.7E-02 | 2 | ||
rs2659056 | 0.925 | 0.080 | 19 | 50832687 | intron variant | T/C | snv | 0.21 | 2 |