Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10713774 | 4 | 26048829 | intergenic variant | C/- | del | 0.18 | 3 | ||||
rs200174418 | 5 | 75449704 | intron variant | GG/- | del | 2 | |||||
rs201445483 | 2 | 17708820 | intron variant | -/GT | delins | 7.3E-05 | 2 | ||||
rs35295665 | 1 | 10737371 | intron variant | -/C | delins | 2 | |||||
rs753833181 | 13 | 32402503 | 3 prime UTR variant | TTGAT/- | delins | 2 | |||||
rs41295800 | 3 | 133765869 | intron variant | T/-;TT | delins | 1 | |||||
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs1229984 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 83 | ||
rs780094 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 62 | ||
rs1047891 | 0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 | 34 | |
rs13107325 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 34 | ||
rs11591147 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 28 | ||
rs11066280 | 0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 | 27 | ||
rs495828 | 0.827 | 0.200 | 9 | 133279294 | upstream gene variant | T/G | snv | 0.81 | 24 | ||
rs3782886 | 0.724 | 0.480 | 12 | 111672685 | synonymous variant | T/C | snv | 1.9E-02 | 5.9E-03 | 22 | |
rs1800961 | 0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 | 21 | |
rs12229654 | 0.763 | 0.320 | 12 | 110976657 | intergenic variant | T/G | snv | 4.8E-03 | 20 | ||
rs12579302 | 0.851 | 0.120 | 12 | 89656726 | intron variant | A/G | snv | 0.15 | 19 | ||
rs597808 | 0.742 | 0.200 | 12 | 111535554 | intron variant | A/G | snv | 0.67 | 19 | ||
rs17696736 | 0.827 | 0.240 | 12 | 112049014 | intron variant | A/G | snv | 0.30 | 18 | ||
rs2074356 | 0.763 | 0.280 | 12 | 112207597 | intron variant | G/A | snv | 3.8E-03 | 18 | ||
rs116843064 | 0.776 | 0.160 | 19 | 8364439 | missense variant | G/A | snv | 1.3E-02 | 1.5E-02 | 16 | |
rs198851 | 6 | 26104404 | downstream gene variant | T/A;C;G | snv | 15 | |||||
rs2954021 | 1.000 | 0.040 | 8 | 125469835 | intron variant | A/G | snv | 0.54 | 15 |