Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs53576 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 42 | |||
rs6318 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 42 | |||
rs76763715 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 35 | ||
rs1360780 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 31 | |||
rs1799889 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 31 | |||
rs421016 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 30 | ||
rs1800947 | 0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 | 28 | ||
rs6994992 | 0.790 | 0.120 | 8 | 31638065 | upstream gene variant | C/A;T | snv | 13 | |||
rs755001634 | 0.763 | 0.280 | 11 | 49154384 | stop gained | G/A | snv | 1.2E-05 | 13 | ||
rs9470080 | 0.827 | 0.080 | 6 | 35678658 | intron variant | T/A;C | snv | 13 | |||
rs110402 | 0.790 | 0.120 | 17 | 45802681 | intron variant | G/A;C | snv | 12 | |||
rs11932595 | 0.827 | 0.160 | 4 | 55457430 | intron variant | A/G;T | snv | 12 | |||
rs27072 | 0.807 | 0.120 | 5 | 1394407 | 3 prime UTR variant | C/A;T | snv | 11 | |||
rs2535629 | 0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv | 9 | |||
rs686 | 0.807 | 0.080 | 5 | 175441697 | 3 prime UTR variant | G/A;C;T | snv | 9 | |||
rs7124442 | 0.827 | 0.160 | 11 | 27655494 | 3 prime UTR variant | C/G;T | snv | 9 | |||
rs2287161 | 0.827 | 0.080 | 12 | 106987362 | upstream gene variant | C/G;T | snv | 7 | |||
rs1409851868 | 0.882 | 0.080 | 3 | 89399325 | missense variant | A/G | snv | 6 | |||
rs77960347 | 18 | 49583585 | missense variant | A/C;G | snv | 4.0E-06; 8.7E-03 | 6 | ||||
rs9657182 | 0.851 | 0.280 | 8 | 39908329 | intron variant | C/G;T | snv | 6 | |||
rs1220000453 | 0.882 | 0.120 | 11 | 58624189 | synonymous variant | C/T | snv | 5 | |||
rs112025902 | 0.925 | 0.080 | 4 | 120232669 | intron variant | A/G;T | snv | 4 | |||
rs1876831 | 0.925 | 0.040 | 17 | 45830379 | non coding transcript exon variant | C/G;T | snv | 4.4E-06; 0.14 | 4 |