Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2664538 | 0.827 | 0.200 | 20 | 46011586 | missense variant | A/G | snv | 6 | |||
rs4065275 | 0.807 | 0.160 | 17 | 39924612 | intron variant | A/G;T | snv | 0.56 | 6 | ||
rs6871536 | 0.827 | 0.160 | 5 | 132634182 | intron variant | T/C | snv | 0.24 | 5 | ||
rs324015 | 0.827 | 0.120 | 12 | 57096317 | 3 prime UTR variant | T/C | snv | 0.76 | 5 | ||
rs1999071 | 0.851 | 0.080 | 14 | 22659998 | regulatory region variant | T/C | snv | 0.29 | 4 | ||
rs10494132 | 0.851 | 0.080 | 1 | 111289601 | upstream gene variant | T/C | snv | 0.26 | 4 | ||
rs11575936 | 0.851 | 0.200 | 6 | 137219288 | missense variant | C/T | snv | 1.3E-03 | 4.1E-04 | 4 | |
rs1805014 | 0.851 | 0.080 | 16 | 27363708 | missense variant | T/C | snv | 7.4E-03 | 1.4E-02 | 4 | |
rs41347648 | 0.882 | 0.080 | 13 | 48707418 | missense variant | A/G | snv | 1.7E-02 | 1.7E-02 | 3 | |
rs1538660 | 0.882 | 0.080 | 9 | 108879545 | missense variant | G/A | snv | 0.19 | 0.22 | 3 | |
rs1558641 | 0.925 | 0.080 | 2 | 102149405 | intron variant | G/A | snv | 0.13 | 3 | ||
rs55661460 | 0.882 | 0.120 | 5 | 159320326 | missense variant | C/T | snv | 2.2E-03 | 7.3E-04 | 3 | |
rs4559 | 0.882 | 0.080 | 12 | 57095865 | 3 prime UTR variant | C/T | snv | 0.59 | 3 | ||
rs2233407 | 0.882 | 0.080 | 14 | 35405317 | upstream gene variant | T/A;C | snv | 3 | |||
rs73985228 | 0.882 | 0.080 | 17 | 39922412 | 3 prime UTR variant | G/C;T | snv | 3 | |||
rs71802646 | 0.882 | 0.080 | 12 | 57111290 | 5 prime UTR variant | ACACACACACACACAC/-;AC;ACAC;ACACAC;ACACACAC;ACACACACAC;ACACACACACAC;ACACACACACACAC;ACACACACACACACACAC;ACACACACACACACACACAC;ACACACACACACACACACACAC;ACACACACACACACACACACACAC;ACACACACACACACACACACACACAC | delins | 0.32 | 3 | ||
rs16947078 | 0.925 | 0.080 | 17 | 47748134 | downstream gene variant | A/G;T | snv | 2 | |||
rs533116 | 0.925 | 0.120 | 11 | 60860110 | upstream gene variant | C/T | snv | 0.28 | 2 | ||
rs2282290 | 0.925 | 0.080 | 1 | 111320829 | intron variant | A/G | snv | 0.38 | 2 | ||
rs3806448 | 0.925 | 0.080 | 1 | 111289583 | upstream gene variant | G/A | snv | 0.45 | 2 | ||
rs1425851607 | 0.925 | 0.080 | 9 | 21440691 | frameshift variant | C/- | delins | 4.2E-06 | 2 | ||
rs900333744 | 0.925 | 0.080 | 9 | 21440695 | missense variant | A/G | snv | 2 | |||
rs1362834154 | 0.925 | 0.080 | 16 | 27363681 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 2 | |
rs3217304 | 0.925 | 0.080 | 2 | 98544046 | intron variant | ACACAC/-;AC;ACAC;ACACACAC;ACACACACAC;ACACACACACAC | delins | 0.25 | 2 | ||
rs3776944 | 0.925 | 0.080 | 5 | 179793009 | upstream gene variant | G/A | snv | 8.4E-02 | 2 |