Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1553196096 | 1 | 22086463 | missense variant | G/A | snv | 5 | |||||
rs11789898 | 9 | 134060541 | intron variant | G/T | snv | 0.14 | 3 | ||||
rs724159945 | 1.000 | 12 | 11885968 | missense variant | C/A;T | snv | 3 | ||||
rs724159946 | 1.000 | 12 | 11884541 | missense variant | G/A | snv | 7.0E-06 | 3 | |||
rs7694379 | 1.000 | 4 | 87265357 | intron variant | G/A | snv | 0.40 | 3 | |||
rs869320714 | 1.000 | 17 | 35557404 | missense variant | A/T | snv | 3 | ||||
rs869320715 | 1.000 | 17 | 35557406 | missense variant | T/A | snv | 3 | ||||
rs1064797085 | 1.000 | 11 | 128810620 | frameshift variant | ATTA/- | delins | 2 | ||||
rs17824620 | 12 | 112663189 | intron variant | C/A | snv | 0.26 | 2 | ||||
rs28362731 | 7 | 30922175 | missense variant | G/A | snv | 3.1E-02 | 2.6E-02 | 2 | |||
rs10510050 | 10 | 118867050 | intron variant | A/G | snv | 0.52 | 1 | ||||
rs11598702 | 10 | 103138228 | intron variant | T/C;G | snv | 1 | |||||
rs1297235855 | 3 | 129062206 | missense variant | C/T | snv | 1 | |||||
rs1523130 | 3 | 119780660 | 5 prime UTR variant | T/C | snv | 0.47 | 1 | ||||
rs1569008655 | 21 | 34799310 | stop gained | G/A | snv | 1 | |||||
rs1569061762 | 21 | 34859476 | missense variant | C/T | snv | 1 | |||||
rs2290280 | 5 | 87412904 | 5 prime UTR variant | C/A;T | snv | 1 | |||||
rs3786136 | 17 | 1869979 | intron variant | G/A | snv | 0.24 | 1 | ||||
rs4694362 | 4 | 71028147 | intron variant | C/T | snv | 0.49 | 1 | ||||
rs5030437 | 11 | 36503205 | intron variant | A/G | snv | 0.78 | 1 | ||||
rs5030470 | 11 | 36493896 | intron variant | A/G | snv | 0.12 | 1 | ||||
rs587778516 | 1 | 43338592 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | |||
rs760797899 | 3 | 184375917 | missense variant | G/A | snv | 8.0E-06 | 1 | ||||
rs766715154 | 13 | 95206759 | missense variant | T/C;G | snv | 4.0E-06 | 1 | ||||
rs779449782 | 12 | 6057915 | missense variant | G/A;C | snv | 1.6E-05 | 1.4E-05 | 1 |