Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs11615 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 62 | |
rs2228001 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 60 | |
rs3212986 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 42 | ||
rs2298881 | 0.653 | 0.400 | 19 | 45423658 | intron variant | C/A;T | snv | 25 | |||
rs121912654 | 0.683 | 0.400 | 17 | 7675143 | missense variant | C/A;T | snv | 4.0E-05 | 21 | ||
rs1800067 | 0.716 | 0.320 | 16 | 13935176 | missense variant | G/A | snv | 5.6E-02 | 5.3E-02 | 17 | |
rs2276466 | 0.732 | 0.320 | 16 | 13949318 | 3 prime UTR variant | C/A;G | snv | 15 | |||
rs744154 | 0.763 | 0.280 | 16 | 13921224 | intron variant | G/C | snv | 0.23 | 11 | ||
rs1799801 | 0.807 | 0.360 | 16 | 13948101 | synonymous variant | T/C | snv | 0.27 | 0.25 | 9 | |
rs147105770 | 0.776 | 0.280 | 16 | 13935697 | missense variant | C/G;T | snv | 1.2E-05; 6.4E-05 | 8 | ||
rs6498486 | 0.776 | 0.200 | 16 | 13919809 | upstream gene variant | A/C | snv | 0.27 | 8 | ||
rs759843019 | 0.807 | 0.240 | 16 | 13920188 | missense variant | G/A | snv | 8.2E-06 | 7.0E-06 | 6 | |
rs121913028 | 0.851 | 0.400 | 19 | 45414870 | missense variant | G/A;C | snv | 1.2E-05; 1.6E-05 | 4 | ||
rs121913049 | 0.851 | 0.240 | 16 | 13947991 | missense variant | C/G;T | snv | 4.8E-04 | 4 | ||
rs2020959 | 0.882 | 0.200 | 16 | 13947765 | stop gained | C/A;T | snv | 3.2E-05; 2.4E-05 | 4 | ||
rs397509403 | 0.851 | 0.200 | 16 | 13928149 | missense variant | T/C | snv | 7.0E-06 | 4 | ||
rs1555468482 | 0.882 | 0.240 | 16 | 13935663 | frameshift variant | C/- | del | 3 | |||
rs2276465 | 0.882 | 0.200 | 16 | 13949157 | 3 prime UTR variant | G/A;C | snv | 3 | |||
rs1799802 | 0.925 | 0.200 | 16 | 13934224 | missense variant | C/T | snv | 4.0E-03 | 4.6E-03 | 2 | |
rs143305574 | 0.925 | 0.160 | 10 | 49517092 | missense variant | T/A;C | snv | 8.0E-06; 6.8E-05 | 2 | ||
rs74737358 | 0.925 | 0.160 | 3 | 14158882 | missense variant | G/A;T | snv | 8.1E-06; 2.6E-03 | 2 |