Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs9581943 | 1.000 | 0.120 | 13 | 27919860 | upstream gene variant | G/A | snv | 0.31 | 1 | ||
rs2900174 | 1.000 | 0.120 | 12 | 11394598 | intron variant | A/G | snv | 0.12 | 1 | ||
rs121912576 | 1.000 | 0.120 | 18 | 51065539 | stop gained | G/T | snv | 1 | |||
rs121912578 | 1.000 | 0.120 | 18 | 51078285 | missense variant | G/C | snv | 1 | |||
rs121912579 | 1.000 | 0.120 | 18 | 51078351 | stop gained | A/T | snv | 1 | |||
rs2417487 | 1.000 | 0.120 | 9 | 104125300 | intron variant | A/G;T | snv | 1 | |||
rs375328708 | 1.000 | 0.120 | 19 | 1226602 | synonymous variant | C/G;T | snv | 6.7E-05 | 6.3E-05 | 1 | |
rs397518442 | 1.000 | 0.120 | 19 | 1220630 | frameshift variant | C/- | delins | 1 | |||
rs17688601 | 1.000 | 0.120 | 7 | 40827064 | intron variant | C/A | snv | 0.20 | 1 | ||
rs200027650 | 1.000 | 0.120 | 12 | 109904025 | missense variant | G/A | snv | 2.5E-04 | 1.4E-04 | 1 | |
rs73328514 | 1.000 | 0.120 | 7 | 47448971 | intron variant | A/T | snv | 0.15 | 1 | ||
rs77038344 | 1.000 | 0.120 | 17 | 40487962 | intron variant | C/T | snv | 8.4E-02 | 1 | ||
rs121912661 | 1.000 | 0.120 | 17 | 7676264 | missense variant | C/A;G | snv | 1 | |||
rs351365 | 1.000 | 0.120 | 1 | 112503773 | intron variant | T/C;G | snv | 1 | |||
rs4285214 | 1.000 | 0.120 | 5 | 124688588 | intron variant | T/G | snv | 0.55 | 1 | ||
rs16986825 | 1.000 | 0.120 | 22 | 28904318 | intron variant | C/T | snv | 0.13 | 1 | ||
rs10887710 | 0.925 | 0.120 | 10 | 80270029 | downstream gene variant | T/C | snv | 0.19 | 2 | ||
rs10919791 | 0.925 | 0.240 | 1 | 199996040 | intergenic variant | G/A | snv | 0.22 | 2 | ||
rs1552462 | 0.925 | 0.120 | 11 | 7235910 | upstream gene variant | C/T | snv | 2.7E-02 | 2 | ||
rs2816938 | 1.000 | 0.120 | 1 | 200016240 | upstream gene variant | T/A | snv | 0.37 | 2 | ||
rs6001516 | 0.925 | 0.120 | 22 | 39248198 | intron variant | C/T | snv | 6.1E-02 | 2 | ||
rs9573163 | 0.925 | 0.120 | 13 | 73334709 | regulatory region variant | C/G;T | snv | 2 | |||
rs708224 | 0.925 | 0.120 | 12 | 32283475 | intron variant | A/G | snv | 0.50 | 2 | ||
rs11644043 | 0.925 | 0.120 | 16 | 50327466 | intron variant | T/C | snv | 0.24 | 2 | ||
rs782128510 | 0.925 | 0.120 | 17 | 410373 | missense variant | C/A;G | snv | 7.6E-05; 8.4E-06 | 2 |