Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs965513 | 0.742 | 0.200 | 9 | 97793827 | intron variant | A/G;T | snv | 15 | |||
rs10817938 | 0.882 | 0.080 | 9 | 97700127 | non coding transcript exon variant | T/C | snv | 3.2E-02 | 5 | ||
rs768827923 | 0.851 | 0.080 | 1 | 9721816 | missense variant | T/G | snv | 6 | |||
rs2660852 | 12 | 96051770 | intergenic variant | C/A | snv | 0.34 | 3 | ||||
rs768949233 | 0.851 | 0.040 | 2 | 9490466 | missense variant | G/C;T | snv | 4.0E-06 | 5 | ||
rs4244285 | 0.695 | 0.360 | 10 | 94781859 | synonymous variant | G/A;C | snv | 0.18 | 18 | ||
rs765431049 | 0.925 | 0.040 | 7 | 93890271 | missense variant | C/T | snv | 1.6E-05 | 4 | ||
rs35301225 | 0.882 | 0.080 | 1 | 9151743 | mature miRNA variant | C/A;T | snv | 5 | |||
rs9589207 | 0.925 | 0.080 | 13 | 91351335 | mature miRNA variant | G/A;C | snv | 5.4E-03; 4.0E-06 | 4 | ||
rs62054619 | 1.000 | 0.080 | 16 | 90029890 | non coding transcript exon variant | G/A | snv | 0.14 | 2 | ||
rs373572 | 0.882 | 0.120 | 3 | 8913705 | missense variant | C/T | snv | 0.68 | 0.70 | 6 | |
rs121909222 | 0.742 | 0.240 | 10 | 87933127 | missense variant | A/G | snv | 13 | |||
rs759435862 | 0.925 | 0.080 | 2 | 8776852 | missense variant | C/A;T | snv | 2.0E-05 | 5 | ||
rs1490204625 | 0.925 | 0.160 | 5 | 87268486 | missense variant | G/A | snv | 5 | |||
rs1172398253 | 0.925 | 0.080 | 1 | 85582045 | missense variant | C/T | snv | 4.0E-06 | 4 | ||
rs1056629 | 0.827 | 0.120 | 16 | 82148499 | 3 prime UTR variant | T/C | snv | 0.14 | 6 | ||
rs753066745 | X | 81277164 | missense variant | C/T | snv | 1.7E-05 | 9.5E-06 | 2 | |||
rs1053129 | 5 | 80626901 | 3 prime UTR variant | C/A;T | snv | 1 | |||||
rs773895706 | 0.925 | 0.080 | 15 | 79090236 | missense variant | G/A | snv | 4.2E-06 | 3 | ||
rs3743073 | 0.807 | 0.120 | 15 | 78617197 | intron variant | G/T | snv | 0.61 | 11 | ||
rs115785973 | 0.925 | 0.080 | 17 | 78357871 | 3 prime UTR variant | C/G;T | snv | 3 | |||
rs370535310 | 0.925 | 0.080 | 9 | 78304854 | missense variant | C/T | snv | 2.1E-05 | 3 | ||
rs121913492 | 0.790 | 0.160 | 9 | 77794572 | missense variant | T/A;C;G | snv | 11 | |||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 |