Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1859788 | 0.925 | 0.080 | 7 | 100374211 | missense variant | A/C;G | snv | 4.0E-06; 0.65 | 3 | ||
rs374019283 | 0.882 | 0.200 | 3 | 10039759 | synonymous variant | T/C | snv | 4.0E-05 | 2.2E-04 | 5 | |
rs1476679 | 0.925 | 0.080 | 7 | 100406823 | intron variant | C/A;T | snv | 4.0E-06; 0.74 | 2 | ||
rs4807399 | 1.000 | 0.080 | 19 | 1004711 | missense variant | C/T | snv | 0.44 | 0.46 | 1 | |
rs865862446 | 0.882 | 0.200 | 3 | 10049416 | missense variant | G/A | snv | 5 | |||
rs2240158 | 0.925 | 0.120 | 19 | 1005231 | missense variant | C/T | snv | 0.36 | 0.41 | 2 | |
rs5966709 | 1.000 | 0.080 | X | 100589509 | intron variant | G/T | snv | 0.40 | 1 | ||
rs747604554 | 1.000 | 0.080 | 3 | 10065441 | frameshift variant | TT/- | delins | 4.0E-06 | 1 | ||
rs1513625 | 1.000 | 0.080 | 2 | 100698011 | intergenic variant | G/A;T | snv | 1 | |||
rs751236171 | 1.000 | 0.080 | 7 | 100891280 | missense variant | C/T | snv | 1.7E-05 | 1 | ||
rs964917 | 1.000 | 0.080 | 8 | 100925227 | intron variant | T/C | snv | 0.55 | 1 | ||
rs983583 | 0.925 | 0.080 | 8 | 100949682 | intron variant | T/C | snv | 0.66 | 2 | ||
rs2227631 | 0.742 | 0.200 | 7 | 101126257 | upstream gene variant | A/G | snv | 0.54 | 13 | ||
rs1799889 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 31 | |||
rs1050283 | 0.882 | 0.160 | 12 | 10159690 | 3 prime UTR variant | G/A | snv | 0.40 | 4 | ||
rs1416580204 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 49 | |
rs7840202 | 0.851 | 0.160 | 8 | 102296172 | intron variant | A/C | snv | 0.21 | 3 | ||
rs972936 | 0.807 | 0.200 | 12 | 102431143 | intron variant | T/C | snv | 0.70 | 9 | ||
rs363043 | 0.925 | 0.080 | 20 | 10245498 | intron variant | C/T | snv | 0.30 | 3 | ||
rs748799635 | 1.000 | 0.080 | 12 | 102475727 | missense variant | C/T | snv | 8.0E-06 | 1 | ||
rs363050 | 0.790 | 0.240 | 20 | 10253609 | intron variant | G/A | snv | 0.57 | 8 | ||
rs223493 | 1.000 | 0.080 | 4 | 102747187 | intron variant | T/G | snv | 0.29 | 1 | ||
rs3025079 | 1.000 | 0.080 | 11 | 102835973 | 3 prime UTR variant | C/T | snv | 2.0E-02 | 1 | ||
rs3824755 | 0.925 | 0.120 | 10 | 102836092 | intron variant | G/A;C;T | snv | 1 | |||
rs743572 | 0.672 | 0.360 | 10 | 102837395 | 5 prime UTR variant | A/G;T | snv | 0.40; 8.1E-06 | 24 |