Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 213 | |||
rs10680577 | 0.776 | 0.160 | 19 | 40798690 | intron variant | -/TACT | delins | 10 | |||
rs34917480 | 0.925 | 0.160 | 2 | 54972426 | 3 prime UTR variant | -/TTA | ins | 7.0E-06 | 3 | ||
rs28381975 | 0.827 | 0.200 | 3 | 33798239 | intron variant | -/TTACGTACCTGTGCA;TTCCGTACCTGTGCA;TTTCGTACCTGTGCA | delins | 5 | |||
rs182073550 | 1.000 | 0.080 | 4 | 40337027 | intron variant | A/-;AA;AAA | delins | 1.2E-02 | 1 | ||
rs61764370 | 0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 | 29 | ||
rs12951053 | 0.732 | 0.160 | 17 | 7674089 | intron variant | A/C | snv | 0.10 | 14 | ||
rs2072671 | 0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 | 14 | |
rs1881457 | 0.790 | 0.280 | 5 | 132656717 | intron variant | A/C | snv | 0.21 | 9 | ||
rs314276 | 0.807 | 0.280 | 6 | 104960124 | intron variant | A/C | snv | 0.65 | 8 | ||
rs1057519729 | 0.827 | 0.080 | 15 | 66435113 | missense variant | A/C | snv | 5 | |||
rs1711972 | 0.925 | 0.160 | 6 | 1388953 | upstream gene variant | A/C | snv | 4.7E-02 | 3 | ||
rs1470579 | 0.925 | 0.160 | 3 | 185811292 | intron variant | A/C | snv | 0.46 | 2 | ||
rs707467 | 0.925 | 0.120 | 1 | 7801624 | intron variant | A/C | snv | 0.22 | 2 | ||
rs863225283 | 0.925 | 0.080 | 2 | 29213993 | missense variant | A/C | snv | 2 | |||
rs11574852 | 1.000 | 0.080 | 10 | 102401718 | intron variant | A/C | snv | 2.3E-02 | 2.3E-02 | 1 | |
rs61761074 | 1.000 | 0.080 | 12 | 25244659 | intron variant | A/C | snv | 2.7E-02 | 1 | ||
rs751648572 | 1.000 | 0.080 | 6 | 159682631 | missense variant | A/C | snv | 4.1E-06 | 1 | ||
rs984755949 | 1.000 | 0.080 | 6 | 33172302 | missense variant | A/C | snv | 1 | |||
rs213210 | 0.742 | 0.240 | 6 | 33208047 | upstream gene variant | A/C;G | snv | 10 | |||
rs11788747 | 0.851 | 0.240 | 9 | 36105267 | synonymous variant | A/C;G | snv | 4.0E-06; 0.34 | 6 | ||
rs3756585 | 1.000 | 0.080 | 5 | 181244029 | intron variant | A/C;G | snv | 0.13 | 1 | ||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 110 | ||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 484 | ||
rs10735810 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 26 |