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 | |
rs486907 | 0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 | 32 | |
rs3789679 | 0.925 | 0.120 | 1 | 230713948 | intron variant | G/A;T | snv | 4 | |||
rs16944 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 92 | ||
rs1990760 | 0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 | 33 | |
rs4553808 | 0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 | 28 | ||
rs2287622 | 0.724 | 0.240 | 2 | 168973818 | missense variant | A/C;G;T | snv | 0.57 | 16 | ||
rs3136558 | 1.000 | 2 | 112833698 | intron variant | A/G | snv | 0.21 | 4 | |||
rs12487066 | 1.000 | 0.080 | 3 | 106193283 | intron variant | T/C | snv | 0.28 | 2 | ||
rs3775291 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 51 | ||
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
rs1800629 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 169 | |
rs12212067 | 0.716 | 0.320 | 6 | 108659993 | intron variant | T/G | snv | 0.14 | 20 | ||
rs371194629 | 0.790 | 0.320 | 6 | 29830804 | 3 prime UTR variant | -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT | ins | 8 | |||
rs4273729 | 0.851 | 0.240 | 6 | 32710820 | upstream gene variant | C/A;G;T | snv | 5 | |||
rs1799889 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 31 | |||
rs1818879 | 0.827 | 0.120 | 7 | 22733108 | downstream gene variant | G/A;C | snv | 7 | |||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs4986791 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 182 | |
rs10814325 | 0.827 | 0.200 | 9 | 36036597 | upstream gene variant | T/A;C;G | snv | 7 | |||
rs1480480967 | 1.000 | 0.080 | 9 | 21367884 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs1336795098 | 9 | 131127544 | synonymous variant | A/G | snv | 7.0E-06 | 1 | ||||
rs12252 | 0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 | 23 | |
rs35068180 | 0.851 | 0.040 | 11 | 102845217 | upstream gene variant | A/-;AA | delins | 5 | |||
rs17886084 | 1.000 | 0.080 | 11 | 102799765 | intron variant | C/- | delins | 2 |