Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs8099917 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 60 | ||
rs12980275 | 0.701 | 0.360 | 19 | 39241143 | upstream gene variant | A/G | snv | 0.36 | 23 | ||
rs1818879 | 0.827 | 0.120 | 7 | 22733108 | downstream gene variant | G/A;C | snv | 7 | |||
rs4273729 | 0.851 | 0.240 | 6 | 32710820 | upstream gene variant | C/A;G;T | snv | 5 | |||
rs2287622 | 0.724 | 0.240 | 2 | 168973818 | missense variant | A/C;G;T | snv | 0.57 | 16 | ||
rs3789679 | 0.925 | 0.120 | 1 | 230713948 | intron variant | G/A;T | snv | 4 | |||
rs179363879 | 0.925 | 0.160 | 21 | 44286092 | missense variant | T/C | snv | 3 | |||
rs1800477 | 0.763 | 0.480 | 18 | 63318540 | missense variant | C/T | snv | 1.8E-02 | 4.9E-03 | 12 | |
rs4804803 | 0.732 | 0.360 | 19 | 7747847 | upstream gene variant | A/G | snv | 0.26 | 15 | ||
rs4553808 | 0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 | 28 | ||
rs139226823 | X | 71616597 | missense variant | C/G;T | snv | 5.5E-06; 5.7E-04 | 1 | ||||
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 | |||
rs11614913 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 111 | |
rs1990760 | 0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 | 33 | |
rs12252 | 0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 | 23 | |
rs1480480967 | 1.000 | 0.080 | 9 | 21367884 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs12979860 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 84 | ||
rs16944 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 92 | ||
rs3136558 | 1.000 | 2 | 112833698 | intron variant | A/G | snv | 0.21 | 4 | |||
rs1364498756 | 14 | 24166173 | missense variant | G/A | snv | 1 | |||||
rs12487066 | 1.000 | 0.080 | 3 | 106193283 | intron variant | T/C | snv | 0.28 | 2 | ||
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
rs7269320 | 20 | 3865750 | missense variant | C/T | snv | 0.16 | 0.21 | 1 | |||
rs17886084 | 1.000 | 0.080 | 11 | 102799765 | intron variant | C/- | delins | 2 |