Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs200192163 | 8 | 72036453 | missense variant | C/A;G | snv | 1.6E-05 | 1 | ||||
rs3872309 | 1 | 16564838 | missense variant | C/T | snv | 1 | |||||
rs1378978590 | 17 | 49510504 | stop gained | C/T | snv | 1 | |||||
rs769854785 | 1 | 156871656 | synonymous variant | C/T | snv | 1 | |||||
rs7824175 | 8 | 53231614 | intron variant | C/G;T | snv | 1 | |||||
rs540825 | 6 | 154093311 | missense variant | A/C;T | snv | 2.8E-05; 0.81 | 1 | ||||
rs677830 | 6 | 154107531 | stop gained | C/A;G;T | snv | 6.6E-06; 6.6E-06; 0.19 | 1 | ||||
rs16970540 | 17 | 35011428 | 3 prime UTR variant | C/T | snv | 0.10 | 1 | ||||
rs12948783 | 17 | 76503318 | upstream gene variant | G/A;C;T | snv | 1 | |||||
rs11709492 | 3 | 38904493 | intron variant | C/T | snv | 0.26 | 1 | ||||
rs11720013 | 3 | 38924745 | intron variant | G/T | snv | 1.0E-01 | 1 | ||||
rs11720988 | 3 | 38865054 | intron variant | G/A | snv | 0.26 | 1 | ||||
rs11898284 | 2 | 166325017 | intron variant | A/G | snv | 0.15 | 1 | ||||
rs12478318 | 2 | 166277030 | missense variant | T/G | snv | 3.7E-02 | 1.3E-02 | 1 | |||
rs4369876 | 2 | 166272746 | missense variant | C/A | snv | 3.3E-02 | 1.3E-02 | 1 | |||
rs879254102 | 2 | 166277257 | missense variant | C/T | snv | 1 | |||||
rs941601 | 14 | 94305204 | intron variant | C/T | snv | 0.19 | 1 | ||||
rs1275569383 | 16 | 28979446 | missense variant | C/G | snv | 7.0E-06 | 1 | ||||
rs1292843126 | 16 | 28975269 | missense variant | G/A;C | snv | 1.6E-05 | 1 | ||||
rs11988795 | 8 | 72037366 | intron variant | C/G;T | snv | 1 | |||||
rs4587017 | 4 | 69081680 | intron variant | T/G | snv | 0.63 | 1 | ||||
rs13093031 | 1.000 | 0.120 | 3 | 88809891 | intergenic variant | A/G | snv | 0.17 | 2 | ||
rs13361160 | 1.000 | 0.040 | 5 | 10169711 | downstream gene variant | T/C | snv | 0.34 | 2 | ||
rs1972597 | 1.000 | 0.040 | 17 | 77598082 | intron variant | T/C | snv | 0.31 | 2 | ||
rs3862188 | 1.000 | 0.040 | 1 | 247702471 | intron variant | T/C | snv | 0.44 | 2 |