Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2070584 | 0.790 | 0.200 | X | 47587120 | intron variant | T/G | snv | 0.44 | 8 | ||
rs72552316 | 0.882 | 0.120 | X | 12889591 | 3 prime UTR variant | T/C | snv | 3 | |||
rs1014971 | 0.882 | 0.120 | 22 | 38936618 | regulatory region variant | C/T | snv | 0.55 | 3 | ||
rs2073859 | 0.882 | 0.120 | 22 | 31278567 | 3 prime UTR variant | G/A | snv | 4.0E-02 | 4 | ||
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs56228771 | 0.827 | 0.200 | 22 | 40410091 | 3 prime UTR variant | -/GTCT;GTCTGTCT | delins | 5 | |||
rs9619311 | 0.851 | 0.160 | 22 | 32800707 | intron variant | T/C | snv | 0.40 | 4 | ||
rs9624880 | 0.882 | 0.120 | 22 | 25588025 | intron variant | C/T | snv | 3 | |||
rs2836007 | 0.925 | 0.120 | 21 | 37834589 | intron variant | C/T | snv | 0.21 | 2 | ||
rs17576 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 73 | |
rs2250889 | 0.667 | 0.520 | 20 | 46013767 | missense variant | G/C;T | snv | 0.88; 1.6E-05 | 24 | ||
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 | |
rs3918242 | 0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 | 54 | ||
rs6104690 | 0.925 | 0.120 | 20 | 11007451 | intron variant | G/A;T | snv | 2 | |||
rs62185668 | 0.925 | 0.120 | 20 | 10981287 | intron variant | C/A | snv | 0.19 | 3 | ||
rs758272654 | 0.611 | 0.680 | 20 | 58909201 | synonymous variant | T/C | snv | 4.0E-06 | 7.0E-06 | 50 | |
rs11671784 | 0.790 | 0.240 | 19 | 13836482 | non coding transcript exon variant | G/A | snv | 1.2E-02 | 1.2E-02 | 9 | |
rs1189516787 | 0.882 | 0.120 | 19 | 33301681 | missense variant | C/G | snv | 7.1E-06 | 3 | ||
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 134 | ||
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs1799793 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 72 | ||
rs1800470 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 107 | ||
rs1800471 | 0.597 | 0.840 | 19 | 41352971 | missense variant | C/G;T | snv | 5.6E-02 | 48 | ||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs25489 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 78 |