Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11614913 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 111 | |
rs10774671 | 0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 | 14 | ||
rs755850200 | 1.000 | 0.040 | 12 | 47846347 | missense variant | T/C | snv | 2.1E-05 | 7.0E-06 | 2 | |
rs781522558 | 1.000 | 12 | 56346844 | stop gained | G/C;T | snv | 4.0E-06 | 2 | |||
rs397516808 | 12 | 112446327 | synonymous variant | A/G | snv | 1.6E-05 | 1.4E-05 | 1 | |||
rs1364498756 | 14 | 24166173 | missense variant | G/A | snv | 1 | |||||
rs1800477 | 0.763 | 0.480 | 18 | 63318540 | missense variant | C/T | snv | 1.8E-02 | 4.9E-03 | 12 | |
rs12979860 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 84 | ||
rs8099917 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 60 | ||
rs1800471 | 0.597 | 0.840 | 19 | 41352971 | missense variant | C/G;T | snv | 5.6E-02 | 48 | ||
rs12980275 | 0.701 | 0.360 | 19 | 39241143 | upstream gene variant | A/G | snv | 0.36 | 23 | ||
rs4804803 | 0.732 | 0.360 | 19 | 7747847 | upstream gene variant | A/G | snv | 0.26 | 15 | ||
rs7269320 | 20 | 3865750 | missense variant | C/T | snv | 0.16 | 0.21 | 1 | |||
rs179363879 | 0.925 | 0.160 | 21 | 44286092 | missense variant | T/C | snv | 3 | |||
rs738409 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 88 | |
rs179008 | 0.763 | 0.360 | X | 12885540 | missense variant | A/C;T | snv | 0.18 | 0.18 | 14 | |
rs139226823 | X | 71616597 | missense variant | C/G;T | snv | 5.5E-06; 5.7E-04 | 1 |