Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs13000023 | 0.851 | 0.080 | 2 | 217059671 | downstream gene variant | G/A;C;T | snv | 0.19 | 4 | ||
rs4415084 | 0.827 | 0.080 | 5 | 44662413 | upstream gene variant | C/T | snv | 0.49 | 6 | ||
rs2077197 | 0.925 | 0.080 | 1 | 226408338 | upstream gene variant | C/G;T | snv | 2 | |||
rs473543 | 0.925 | 0.080 | 6 | 106327811 | upstream gene variant | A/C;G | snv | 2 | |||
rs7527192 | 0.925 | 0.080 | 1 | 226408378 | upstream gene variant | C/T | snv | 0.23 | 2 | ||
rs2491231 | 0.925 | 0.080 | 13 | 28036046 | splice region variant | A/G | snv | 0.71 | 0.61 | 2 | |
rs552752779 | 0.925 | 0.080 | 17 | 61784427 | splice region variant | A/C;G | snv | 4.0E-06; 2.1E-04 | 2 | ||
rs587779287 | 0.827 | 0.200 | 2 | 47806280 | frameshift variant | GTACATTATTTTC/- | delins | 5 | |||
rs1801157 | 0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 | 46 | ||
rs1360485 | 0.742 | 0.320 | 13 | 30457747 | 3 prime UTR variant | C/T | snv | 0.58 | 16 | ||
rs8176318 | 0.807 | 0.120 | 17 | 43045257 | 3 prime UTR variant | C/A | snv | 0.34 | 0.29 | 6 | |
rs1054135 | 0.851 | 0.240 | 8 | 81478525 | 3 prime UTR variant | C/T | snv | 0.17 | 5 | ||
rs2814778 | 0.763 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 | 24 | ||
rs2249825 | 0.695 | 0.440 | 13 | 30463766 | 5 prime UTR variant | G/A;C;T | snv | 23 | |||
rs11615 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 62 | |
rs2228014 | 0.752 | 0.240 | 2 | 136115514 | synonymous variant | G/A | snv | 4.6E-02 | 3.5E-02 | 14 | |
rs8170 | 0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 | 13 | |
rs772885662 | 0.925 | 0.080 | 17 | 43063911 | synonymous variant | T/C;G | snv | 4.0E-06; 4.0E-06 | 2 | ||
rs3803662 | 0.662 | 0.440 | 16 | 52552429 | non coding transcript exon variant | A/G | snv | 0.63 | 25 | ||
rs72631823 | 0.925 | 0.080 | 1 | 9151723 | non coding transcript exon variant | C/T | snv | 1.2E-04 | 4.1E-04 | 2 | |
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 104 |