Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6857600 | 0.925 | 0.120 | 4 | 88144923 | intron variant | C/T | snv | 0.28 | 3 | ||
rs12566340 | 0.925 | 0.200 | 1 | 113877706 | 3 prime UTR variant | C/A;T | snv | 3 | |||
rs3789607 | 1 | 113823812 | intron variant | T/C | snv | 0.21 | 1 | ||||
rs3811021 | 1.000 | 0.080 | 1 | 113814041 | 3 prime UTR variant | A/G | snv | 0.15 | 2 | ||
rs3218674 | 1.000 | 0.120 | 11 | 108244860 | synonymous variant | C/G;T | snv | 1.1E-02 | 1.1E-02 | 2 | |
rs11886868 | 0.752 | 0.280 | 2 | 60493111 | intron variant | C/T | snv | 0.65 | 12 | ||
rs4671393 | 0.790 | 0.400 | 2 | 60493816 | intron variant | A/C;G | snv | 11 | |||
rs1800477 | 0.763 | 0.480 | 18 | 63318540 | missense variant | C/T | snv | 1.8E-02 | 4.9E-03 | 12 | |
rs17757541 | 0.827 | 0.240 | 18 | 63212453 | intron variant | C/G;T | snv | 7 | |||
rs17655 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 52 | |
rs539846 | 1.000 | 0.120 | 15 | 40105735 | intron variant | G/C;T | snv | 2 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs2227945 | 1.000 | 0.080 | 17 | 43092113 | missense variant | T/C;G | snv | 2.5E-03 | 1.0E-02 | 2 | |
rs104893626 | 0.827 | 0.280 | 2 | 136114915 | stop gained | G/C | snv | 11 | |||
rs141185042 | 12 | 32707409 | missense variant | A/T | snv | 4.1E-06 | 7.0E-06 | 1 | |||
rs604714 | 0.925 | 0.120 | 11 | 119099986 | intron variant | C/A | snv | 0.31 | 3 | ||
rs2509049 | 0.827 | 0.160 | 11 | 119095811 | upstream gene variant | C/A;T | snv | 6 | |||
rs9808753 | 0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 | 17 | |
rs9610 | 0.882 | 0.240 | 11 | 118001371 | 3 prime UTR variant | G/A;T | snv | 0.51 | 4 | ||
rs1800896 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 113 | ||
rs2069812 | 0.851 | 0.240 | 5 | 132544224 | intron variant | A/G | snv | 0.54 | 5 | ||
rs1494555 | 0.790 | 0.120 | 5 | 35871088 | missense variant | G/A | snv | 0.64 | 0.72 | 8 | |
rs355689 | 1.000 | 0.040 | 4 | 77586643 | intron variant | T/A;C | snv | 2 | |||
rs773862672 | 0.882 | 0.280 | 1 | 11247922 | missense variant | G/A;C | snv | 1.2E-05 | 6 |