Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3775296 | 0.851 | 0.160 | 4 | 186076613 | splice region variant | C/A | snv | 0.18 | 0.18 | 6 | |
rs1196547982 | 0.925 | 0.120 | 4 | 153703650 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs1531289 | 0.925 | 0.080 | 4 | 55089065 | intron variant | T/A;C | snv | 2 | |||
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 | |
rs6568431 | 0.790 | 0.320 | 6 | 106140931 | intron variant | A/C | snv | 0.61 | 7 | ||
rs2245214 | 0.827 | 0.240 | 6 | 106214866 | intron variant | C/G | snv | 0.42 | 6 | ||
rs13194491 | 1.000 | 0.040 | 6 | 27069301 | intergenic variant | C/T | snv | 4.8E-02 | 5 | ||
rs760370 | 0.925 | 0.120 | 6 | 44233216 | intron variant | A/G | snv | 0.36 | 3 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs1128503 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 64 | |
rs1617640 | 0.742 | 0.520 | 7 | 100719675 | upstream gene variant | C/A;G;T | snv | 15 | |||
rs7385804 | 0.851 | 0.120 | 7 | 100638347 | intron variant | C/A | snv | 0.65 | 14 | ||
rs768843272 | 0.925 | 0.080 | 7 | 100629298 | missense variant | T/C | snv | 8.4E-05 | 7.7E-05 | 2 | |
rs2071346 | 0.925 | 0.160 | 8 | 127736777 | intron variant | G/T | snv | 7.1E-02 | 3 | ||
rs4645948 | 0.882 | 0.160 | 8 | 127736252 | synonymous variant | C/T | snv | 2.8E-02 | 3 | ||
rs1554544862 | 1.000 | 0.040 | 8 | 41694003 | frameshift variant | TGGAACTTCCGGCGCCGGGG/- | delins | 1 | |||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs77375493 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 187 | ||
rs775910328 | 0.882 | 0.120 | 9 | 117713471 | missense variant | A/G | snv | 4.0E-06 | 3 | ||
rs1470452230 | 0.925 | 0.120 | 9 | 135561895 | missense variant | A/C | snv | 7.0E-06 | 2 | ||
rs363717 | 1.000 | 0.040 | 9 | 104782419 | 3 prime UTR variant | C/T | snv | 0.85 | 1 | ||
rs1934951 | 0.925 | 0.160 | 10 | 95038791 | intron variant | C/T | snv | 0.24 | 4 | ||
rs10761745 | 0.882 | 0.240 | 10 | 63341311 | intron variant | G/C | snv | 0.87 | 3 |