Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3804329 | 1.000 | 0.080 | 6 | 106238552 | intron variant | A/G | snv | 0.15 | 2 | ||
rs62625308 | 0.851 | 0.200 | 17 | 43091924 | stop gained | G/A;C | snv | 1.2E-05 | 2 | ||
rs2336219 | 1.000 | 0.080 | 19 | 45409148 | missense variant | G/A | snv | 0.21 | 0.19 | 2 | |
rs1156560901 | 2 | 201880120 | missense variant | A/G | snv | 1.4E-05 | 2 | ||||
rs10420252 | 1.000 | 0.080 | 19 | 35648270 | upstream gene variant | G/A | snv | 9.7E-02 | 2 | ||
rs6510502 | 1.000 | 0.080 | 19 | 35647577 | upstream gene variant | A/C;G | snv | 2 | |||
rs723526 | 1.000 | 7 | 55067126 | intron variant | A/G | snv | 0.86 | 2 | |||
rs1308088661 | 17 | 39727880 | missense variant | G/A | snv | 4.0E-06 | 2 | ||||
rs9397080 | 1.000 | 0.040 | 6 | 152059380 | intron variant | C/T | snv | 0.22 | 2 | ||
rs62054619 | 1.000 | 0.080 | 16 | 90029890 | non coding transcript exon variant | G/A | snv | 0.14 | 2 | ||
rs2286742 | 1.000 | 0.080 | 10 | 113580733 | intron variant | G/A;C | snv | 0.57; 8.2E-06 | 2 | ||
rs3740530 | 1.000 | 0.080 | 10 | 113574365 | synonymous variant | C/T | snv | 0.63 | 0.55 | 2 | |
rs140451238 | 1.000 | 0.080 | 5 | 157208978 | synonymous variant | T/C | snv | 1.6E-04 | 7.8E-04 | 2 | |
rs3923594 | 1.000 | 0.120 | 11 | 119317205 | intron variant | C/A;T | snv | 7.1E-06 | 2 | ||
rs181264737 | 8 | 124589710 | missense variant | C/A;G;T | snv | 1.2E-05; 4.1E-06; 4.1E-06 | 2 | ||||
rs11246050 | 1.000 | 0.080 | 11 | 284257 | synonymous variant | G/A;C | snv | 0.16; 4.0E-06 | 2 | ||
rs1347591 | 1.000 | 0.080 | 16 | 56834788 | intron variant | A/G | snv | 0.47 | 0.47 | 2 | |
rs4461062 | 1.000 | 0.080 | 16 | 56830706 | intron variant | C/T | snv | 0.48 | 0.48 | 2 | |
rs367722824 | 1.000 | 0.120 | 4 | 54278512 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 2 | |
rs771308693 | 8 | 140752306 | missense variant | G/A | snv | 3.2E-05 | 7.0E-06 | 2 | |||
rs2118593 | 1.000 | 0.080 | 3 | 72447740 | upstream gene variant | G/A;C;T | snv | 2 | |||
rs753066745 | X | 81277164 | missense variant | C/T | snv | 1.7E-05 | 9.5E-06 | 2 | |||
rs1410727652 | 1.000 | 0.080 | 6 | 160348669 | missense variant | C/T | snv | 7.0E-06 | 2 | ||
rs33954691 | 1.000 | 0.080 | 5 | 1255405 | synonymous variant | G/A | snv | 0.13 | 9.0E-02 | 2 | |
rs992157 | 0.790 | 0.080 | 2 | 218290058 | 5 prime UTR variant | G/A | snv | 0.46 | 2 |