Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs758835365 | 1.000 | 0.120 | 10 | 89010795 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 1 | |
rs764168570 | 1.000 | 0.120 | 3 | 12608879 | synonymous variant | C/T | snv | 7.0E-06 | 1 | ||
rs766588452 | 1.000 | 0.120 | 1 | 65621389 | missense variant | A/C;G | snv | 8.0E-06; 2.0E-05 | 1 | ||
rs78440425 | 1.000 | 0.120 | 11 | 118888302 | intron variant | G/A | snv | 1.1E-02 | 1 | ||
rs80202369 | 1.000 | 0.120 | 11 | 118873150 | intergenic variant | G/A | snv | 6.6E-03 | 1 | ||
rs2509049 | 0.827 | 0.160 | 11 | 119095811 | upstream gene variant | C/A;T | snv | 6 | |||
rs3660 | 0.882 | 0.160 | 12 | 52286153 | 3 prime UTR variant | C/G | snv | 0.51 | 6 | ||
rs6449182 | 0.807 | 0.160 | 4 | 15778830 | intron variant | C/G | snv | 0.22 | 6 | ||
rs75002266 | 0.827 | 0.160 | 2 | 147939241 | missense variant | G/A | snv | 3.2E-03 | 3.0E-03 | 6 | |
rs2070673 | 0.827 | 0.160 | 10 | 133527063 | non coding transcript exon variant | A/T | snv | 0.67 | 5 | ||
rs4833103 | 0.925 | 0.160 | 4 | 38813881 | intron variant | A/C | snv | 0.64 | 5 | ||
rs113686495 | 0.925 | 0.160 | 2 | 201258757 | intron variant | ATTCTGTC/- | delins | 4 | |||
rs1041163 | 0.882 | 0.160 | 1 | 100718269 | upstream gene variant | T/C | snv | 0.18 | 3 | ||
rs11038689 | 0.882 | 0.160 | 11 | 45852713 | intron variant | A/G | snv | 0.19 | 3 | ||
rs1127717 | 0.925 | 0.160 | 3 | 126107216 | missense variant | T/C | snv | 0.18 | 0.20 | 3 | |
rs1401417 | 0.882 | 0.160 | 11 | 45858559 | intron variant | C/G | snv | 0.19 | 3 | ||
rs147603016 | 0.925 | 0.160 | 5 | 177093286 | synonymous variant | G/A;C | snv | 1.5E-04; 8.2E-06 | 3 | ||
rs227060 | 0.882 | 0.160 | 11 | 108334154 | intron variant | C/T | snv | 0.27 | 3 | ||
rs7123390 | 0.882 | 0.160 | 11 | 45869867 | intron variant | G/A | snv | 0.22 | 0.22 | 3 | |
rs161870 | 0.925 | 0.160 | 5 | 7878079 | synonymous variant | T/C | snv | 0.18 | 0.21 | 2 | |
rs1801181 | 0.925 | 0.160 | 21 | 43060506 | synonymous variant | G/A | snv | 0.33 | 2 | ||
rs234706 | 0.925 | 0.160 | 21 | 43065240 | synonymous variant | G/A | snv | 0.27 | 2 | ||
rs4661636 | 0.925 | 0.160 | 1 | 15496566 | intron variant | C/T | snv | 0.24 | 2 | ||
rs606231364 | 0.925 | 0.160 | 10 | 89003071 | missense variant | G/A | snv | 2 | |||
rs13706 | 0.776 | 0.200 | 17 | 40300899 | missense variant | G/A;C | snv | 0.15; 8.0E-06 | 11 |