Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 6 | |
rs760805 | 0.776 | 0.240 | 1 | 24925432 | intron variant | A/T | snv | 0.42 | 2 | ||
rs1476413 | 0.790 | 0.360 | 1 | 11792243 | intron variant | C/G;T | snv | 4.0E-06; 0.26 | 0.23 | 1 | |
rs2067079 | 0.807 | 0.240 | 1 | 173866073 | non coding transcript exon variant | C/T | snv | 0.22 | 0.18 | 1 | |
rs11892031 | 0.882 | 0.120 | 2 | 233656637 | intron variant | A/C;T | snv | 4 | |||
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 48 | ||
rs10936599 | 0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 | 18 | |
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 5 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 4 | |||
rs710521 | 0.851 | 0.200 | 3 | 189928144 | intergenic variant | T/C | snv | 0.24 | 3 | ||
rs1799864 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 2 | |
rs2293607 | 0.807 | 0.200 | 3 | 169764547 | non coding transcript exon variant | T/A;C | snv | 2 | |||
rs121913483 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 23 | ||
rs28931615 | 0.732 | 0.240 | 4 | 1804426 | missense variant | C/A;T | snv | 3 | |||
rs798766 | 0.851 | 0.120 | 4 | 1732512 | intron variant | T/C | snv | 0.76 | 2 | ||
rs401681 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 17 | ||
rs2736100 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 16 | ||
rs351855 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 4 | |
rs2736098 | 0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 | 2 | |
rs2042329 | 0.882 | 0.120 | 5 | 64771925 | intron variant | T/C;G | snv | 1 | |||
rs2230641 | 0.807 | 0.240 | 5 | 87399457 | missense variant | A/G;T | snv | 0.18 | 0.17 | 1 | |
rs2010963 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 1 | ||
rs763780 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 1 | |
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 22 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 2 |