Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs1799971 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 95 | |
rs25531 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 72 | ||
rs1800497 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 56 | |
rs1801028 | 0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 | 24 | |
rs1800532 | 0.763 | 0.160 | 11 | 18026269 | intron variant | G/T | snv | 0.33 | 15 | ||
rs165774 | 0.807 | 0.120 | 22 | 19965038 | 3 prime UTR variant | G/A | snv | 0.27 | 11 | ||
rs1076560 | 0.776 | 0.120 | 11 | 113412966 | intron variant | C/A | snv | 0.16 | 11 | ||
rs1799732 | 0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins | 11 | |||
rs686 | 0.807 | 0.080 | 5 | 175441697 | 3 prime UTR variant | G/A;C;T | snv | 9 | |||
rs2235749 | 0.790 | 0.200 | 20 | 1979293 | 3 prime UTR variant | G/A | snv | 0.37 | 7 | ||
rs1042114 | 0.807 | 0.120 | 1 | 28812463 | missense variant | G/C;T | snv | 0.91 | 6 | ||
rs1799972 | 0.827 | 0.080 | 6 | 154039561 | missense variant | C/A;G;T | snv | 4.1E-06; 1.7E-02 | 6 | ||
rs1126671 | 0.851 | 0.120 | 4 | 99127263 | missense variant | T/C | snv | 0.76 | 0.75 | 5 | |
rs2234918 | 0.827 | 0.200 | 1 | 28863085 | synonymous variant | C/T | snv | 0.59 | 0.50 | 5 | |
rs678849 | 0.882 | 0.120 | 1 | 28818676 | intron variant | C/T | snv | 0.44 | 5 | ||
rs751416416 | 0.882 | 0.120 | 8 | 53250920 | missense variant | C/A;T | snv | 8.3E-06; 4.1E-06 | 5 | ||
rs1042363 | 0.882 | 0.080 | 6 | 151356693 | 3 prime UTR variant | T/C | snv | 4 | |||
rs948854 | 0.882 | 0.200 | 11 | 68682735 | upstream gene variant | C/T | snv | 0.65 | 4 | ||
rs6985606 | 0.882 | 0.080 | 8 | 53248556 | intron variant | T/C | snv | 0.63 | 4 | ||
rs702764 | 0.925 | 0.120 | 8 | 53229597 | synonymous variant | T/C;G | snv | 0.17; 8.0E-06 | 4 | ||
rs997917 | 0.882 | 0.080 | 8 | 53239818 | intron variant | T/C | snv | 0.43 | 4 | ||
rs1997794 | 0.851 | 0.120 | 20 | 1994212 | 5 prime UTR variant | T/C | snv | 0.50 | 4 | ||
rs910080 | 0.851 | 0.120 | 20 | 1979580 | 3 prime UTR variant | A/G | snv | 0.35 | 4 | ||
rs35349697 | 0.882 | 0.080 | 2 | 207560294 | synonymous variant | G/A | snv | 8.0E-06 | 3 |