Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs1544410 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 78 | |||
rs7041 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 64 | ||
rs4588 | 0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 | 53 | ||
rs1800471 | 0.597 | 0.840 | 19 | 41352971 | missense variant | C/G;T | snv | 5.6E-02 | 48 | ||
rs1800925 | 0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv | 37 | |||
rs1799889 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 31 | |||
rs28934571 | 0.645 | 0.360 | 17 | 7674216 | missense variant | C/A;G | snv | 31 | |||
rs1127354 | 0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 | 26 | ||
rs12785878 | 0.677 | 0.520 | 11 | 71456403 | intron variant | G/A;T | snv | 25 | |||
rs641738 | 0.689 | 0.320 | 19 | 54173068 | missense variant | T/A;C;G | snv | 22 | |||
rs267606959 | 0.732 | 0.200 | 15 | 89318986 | missense variant | G/A | snv | 2.0E-05 | 19 | ||
rs10774671 | 0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 | 14 | ||
rs72613567 | 0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 | 14 | ||
rs10833 | 0.776 | 0.160 | 4 | 141733394 | 3 prime UTR variant | T/A;C | snv | 10 | |||
rs236918 | 0.776 | 0.160 | 11 | 117220893 | non coding transcript exon variant | G/A;C | snv | 10 | |||
rs1161457931 | 0.763 | 0.200 | 22 | 37084836 | missense variant | C/T | snv | 6.4E-06 | 9 | ||
rs11558492 | 0.827 | 0.200 | 1 | 231272345 | missense variant | A/G;T | snv | 0.16 | 5 | ||
rs10336 | 0.851 | 0.240 | 4 | 76001835 | 3 prime UTR variant | A/G;T | snv | 4 | |||
rs10433937 | 0.882 | 0.080 | 4 | 87308948 | intron variant | T/A;C;G | snv | 4 | |||
rs3741981 | 0.882 | 0.120 | 12 | 112911065 | missense variant | G/A;C | snv | 3 | |||
rs1063303 | 0.925 | 0.120 | 11 | 5698520 | missense variant | G/A;C;T | snv | 4.0E-06; 0.50; 1.6E-05 | 2 | ||
rs17886084 | 1.000 | 0.080 | 11 | 102799765 | intron variant | C/- | delins | 2 | |||
rs267607117 | 0.925 | 0.080 | 8 | 93780747 | missense variant | G/T | snv | 2 |