Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121909210 | 0.708 | 0.200 | 5 | 136046406 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 15 | ||
rs121909211 | 0.724 | 0.200 | 5 | 136046407 | missense variant | G/A;T | snv | 4.0E-05 | 15 | ||
rs121909208 | 0.724 | 0.240 | 5 | 136056780 | missense variant | C/T | snv | 7.0E-06 | 13 | ||
rs121909209 | 0.763 | 0.160 | 5 | 136056781 | missense variant | G/A | snv | 9 | |||
rs121909215 | 0.790 | 0.200 | 5 | 136060898 | missense variant | G/A | snv | 7 | |||
rs80358192 | 0.807 | 0.080 | 1 | 36098332 | missense variant | A/C;G | snv | 4.6E-05 | 6 | ||
rs121909212 | 0.807 | 0.160 | 5 | 136055770 | missense variant | C/A;G;T | snv | 3.2E-04; 3.2E-05; 3.6E-05 | 6 | ||
rs1052006472 | 0.827 | 0.200 | 5 | 136060907 | missense variant | A/G | snv | 5 | |||
rs201928238 | 0.851 | 0.160 | 8 | 85480683 | missense variant | G/A | snv | 1.4E-04 | 8.4E-05 | 4 | |
rs756283153 | 0.882 | 0.160 | 1 | 230710465 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06 | 3 | ||
rs763075517 | 0.882 | 0.080 | 16 | 75479311 | missense variant | A/G | snv | 1.6E-05 | 7.0E-06 | 3 | |
rs709932 | 0.882 | 0.160 | 14 | 94382864 | missense variant | C/T | snv | 0.16 | 0.12 | 3 | |
rs72547544 | 0.925 | 0.080 | 16 | 75479500 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 2 | |
rs760714959 | 0.925 | 0.080 | 10 | 104037688 | synonymous variant | G/A | snv | 4.0E-06 | 1.4E-05 | 2 | |
rs1554579819 | 0.925 | 0.080 | 8 | 101492922 | intron variant | A/- | del | 2 | |||
rs1554579878 | 0.925 | 0.080 | 8 | 101493333 | intron variant | G/T | snv | 2 | |||
rs2292245 | 0.925 | 0.080 | 3 | 62203515 | missense variant | G/A | snv | 0.19 | 0.16 | 2 | |
rs7640737 | 0.925 | 0.080 | 3 | 62047679 | intron variant | C/T | snv | 0.12 | 2 | ||
rs1411887514 | 0.925 | 0.080 | 17 | 82766304 | missense variant | A/G | snv | 4.0E-06 | 2 | ||
rs757933370 | 0.925 | 0.080 | 5 | 136046373 | missense variant | G/A;T | snv | 1.5E-04; 4.0E-06 | 2 | ||
rs371811409 | 0.925 | 0.080 | 1 | 11285832 | missense variant | G/A | snv | 7.0E-06 | 2 | ||
rs1483153444 | 1.000 | 0.080 | 9 | 121302147 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs747805751 | 1.000 | 0.080 | 9 | 121310774 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 1 | |
rs1554579832 | 1.000 | 0.080 | 8 | 101493045 | intron variant | T/- | delins | 1 | |||
rs766305306 | 1.000 | 0.080 | 10 | 31520904 | frameshift variant | -/G | delins | 1 |