Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs738409 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 88 | |
rs12979860 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 84 | ||
rs3732379 | 0.637 | 0.680 | 3 | 39265765 | missense variant | C/T | snv | 0.22 | 0.22 | 38 | |
rs28934571 | 0.645 | 0.360 | 17 | 7674216 | missense variant | C/A;G | snv | 31 | |||
rs145204276 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 31 | ||
rs11134527 | 0.677 | 0.400 | 5 | 168768351 | intron variant | G/A | snv | 0.25 | 24 | ||
rs2596542 | 0.724 | 0.200 | 6 | 31398818 | upstream gene variant | C/T | snv | 0.41 | 18 | ||
rs391957 | 0.763 | 0.240 | 9 | 125241745 | non coding transcript exon variant | T/C | snv | 0.72 | 10 | ||
rs10680577 | 0.776 | 0.160 | 19 | 40798690 | intron variant | -/TACT | delins | 10 | |||
rs7421861 | 0.790 | 0.200 | 2 | 241853198 | intron variant | A/G;T | snv | 9 | |||
rs4149963 | 0.851 | 0.120 | 1 | 241872080 | missense variant | C/T | snv | 0.11; 6.8E-05 | 7.6E-02 | 7 | |
rs867384693 | 0.851 | 0.120 | 5 | 141625349 | missense variant | C/A;T | snv | 6 | |||
rs3821204 | 0.807 | 0.160 | 2 | 102343821 | 3 prime UTR variant | C/G | snv | 0.21 | 6 | ||
rs56228771 | 0.827 | 0.200 | 22 | 40410091 | 3 prime UTR variant | -/GTCT;GTCTGTCT | delins | 5 | |||
rs1049606 | 0.851 | 0.160 | 12 | 4273870 | 5 prime UTR variant | C/T | snv | 0.58 | 4 | ||
rs246871 | 0.882 | 0.160 | 5 | 157158243 | intron variant | T/C | snv | 0.42 | 3 | ||
rs6710479 | 0.882 | 0.200 | 2 | 241855866 | intron variant | T/C | snv | 0.51 | 3 | ||
rs3859501 | 0.882 | 0.120 | 19 | 53788157 | non coding transcript exon variant | A/C | snv | 0.43 | 3 | ||
rs897092263 | 1.000 | 0.080 | 19 | 41009317 | missense variant | T/G | snv | 7.0E-06 | 2 | ||
rs41386349 | 0.925 | 0.200 | 2 | 241851697 | intron variant | G/A | snv | 0.10 | 2 | ||
rs1367492395 | 0.925 | 0.160 | 17 | 7673589 | missense variant | G/T | snv | 2 |