Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1417373701 | 0.925 | 0.120 | 5 | 102399606 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs773403329 | 0.925 | 0.120 | 5 | 102419925 | missense variant | A/G | snv | 4.1E-06 | 7.0E-06 | 2 | |
rs758576072 | 0.851 | 0.160 | 8 | 104244917 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 4 | ||
rs377163259 | 1.000 | 0.120 | 8 | 104244975 | missense variant | G/A | snv | 2.8E-05 | 3.5E-05 | 1 | |
rs756007506 | 1.000 | 0.120 | 12 | 104327604 | missense variant | T/C | snv | 4.0E-06 | 1 | ||
rs1157289563 | 0.925 | 0.120 | 9 | 108881749 | missense variant | C/T | snv | 2 | |||
rs6108746 | 1.000 | 0.120 | 20 | 10922123 | intron variant | T/C | snv | 0.16 | 1 | ||
rs1314736087 | 0.851 | 0.120 | 8 | 109575782 | frameshift variant | GA/- | delins | 4.0E-06 | 5 | ||
rs80356715 | 0.807 | 0.120 | 1 | 11016874 | missense variant | C/G;T | snv | 8.0E-06; 2.2E-04 | 6 | ||
rs80356726 | 0.763 | 0.120 | 1 | 11022352 | splice acceptor variant | G/A | snv | 4.0E-06 | 12 | ||
rs80356730 | 0.807 | 0.120 | 1 | 11022418 | missense variant | A/G | snv | 8.0E-06 | 7 | ||
rs367543041 | 0.742 | 0.200 | 1 | 11022553 | missense variant | G/A;C | snv | 3.0E-05 | 15 | ||
rs363371 | 0.882 | 0.120 | 10 | 117226885 | TF binding site variant | G/A | snv | 0.19 | 5 | ||
rs363324 | 0.925 | 0.120 | 10 | 117229651 | intergenic variant | G/A | snv | 0.57 | 2 | ||
rs10101195 | 1.000 | 0.120 | 8 | 11765703 | upstream gene variant | C/A | snv | 0.31 | 1 | ||
rs1189501362 | 0.882 | 0.120 | 3 | 119863583 | missense variant | G/A | snv | 7.0E-06 | 4 | ||
rs1595014 | 0.882 | 0.120 | 7 | 12148903 | intergenic variant | T/A | snv | 0.23 | 3 | ||
rs3173615 | 0.807 | 0.200 | 7 | 12229791 | missense variant | C/A;G | snv | 0.49 | 12 | ||
rs7791726 | 1.000 | 0.120 | 7 | 12243703 | downstream gene variant | G/C | snv | 0.52 | 1 | ||
rs1990622 | 0.742 | 0.200 | 7 | 12244161 | downstream gene variant | A/G | snv | 0.52 | 16 | ||
rs12546767 | 0.925 | 0.120 | 8 | 125070323 | intron variant | T/C;G | snv | 2 | |||
rs746478952 | 1.000 | 0.120 | 7 | 128842895 | missense variant | G/A | snv | 3.2E-05 | 2.8E-05 | 1 | |
rs747481280 | 0.851 | 0.120 | 10 | 13132068 | missense variant | T/G | snv | 8.0E-06 | 4 | ||
rs201795631 | 0.882 | 0.200 | 9 | 132349336 | missense variant | T/C;G | snv | 8.0E-06; 8.0E-06 | 3 | ||
rs6809184 | 1.000 | 0.120 | 3 | 171170409 | intron variant | C/T | snv | 6.2E-02 | 1 |