Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3740066 | 0.724 | 0.440 | 10 | 99844450 | missense variant | C/G;T | snv | 2.4E-05; 0.34 | 20 | ||
rs17879702 | 1.000 | 0.080 | 6 | 32584346 | missense variant | G/A | snv | 3.2E-02 | 5.7E-02 | 2 | |
rs4467099 | 16 | 11449038 | missense variant | C/A;T | snv | 0.66 | 1 | ||||
rs352140 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 42 | ||
rs3804099 | 0.627 | 0.680 | 4 | 153703504 | synonymous variant | T/C | snv | 0.40 | 0.48 | 40 | |
rs3804100 | 0.633 | 0.720 | 4 | 153704257 | synonymous variant | T/C | snv | 9.0E-02 | 6.7E-02 | 36 | |
rs4803217 | 0.882 | 0.120 | 19 | 39243580 | 3 prime UTR variant | C/A | snv | 0.39 | 4 | ||
rs1047782 | 6 | 24650503 | 3 prime UTR variant | T/C;G | snv | 1 | |||||
rs3087943 | 6 | 24650533 | 3 prime UTR variant | A/G | snv | 0.18 | 1 | ||||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs11614913 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 111 | |
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 | |
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs368234815 | 0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins | 15 | |||
rs17568725 | 5 | 171743637 | TF binding site variant | C/A | snv | 0.19 | 1 | ||||
rs12980275 | 0.701 | 0.360 | 19 | 39241143 | upstream gene variant | A/G | snv | 0.36 | 23 | ||
rs10853728 | 0.851 | 0.160 | 19 | 39254506 | downstream gene variant | C/A;G;T | snv | 5 |