Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4273729 | 0.851 | 0.240 | 6 | 32710820 | upstream gene variant | C/A;G;T | snv | 5 | |||
rs1439490 | 0.882 | 0.120 | 22 | 21351147 | upstream gene variant | T/C | snv | 3 | |||
rs1562902 | 0.925 | 0.120 | 11 | 14896670 | upstream gene variant | C/T | snv | 0.55 | 3 | ||
rs7248668 | 0.925 | 0.080 | 19 | 39253181 | upstream gene variant | G/A | snv | 0.16 | 3 | ||
rs2267531 | 0.925 | 0.120 | X | 133986233 | upstream gene variant | G/A;C | snv | 2 | |||
rs8105790 | 0.925 | 0.160 | 19 | 39241861 | upstream gene variant | T/C | snv | 0.20 | 2 | ||
rs116399066 | 1.000 | 0.080 | 1 | 143723149 | upstream gene variant | C/A;T | snv | 1 | |||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs10735810 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 26 | |||
rs3764880 | 0.752 | 0.320 | X | 12906707 | start lost | A/G | snv | 0.31 | 0.30 | 11 | |
rs3733359 | 0.925 | 0.120 | 4 | 71784057 | splice region variant | G/A | snv | 0.12; 4.2E-06 | 0.13 | 3 | |
rs13401937 | 1.000 | 0.080 | 2 | 55025078 | splice region variant | T/G | snv | 0.11 | 0.14 | 1 | |
rs9380516 | 0.925 | 0.120 | 6 | 35534425 | TF binding site variant | T/C | snv | 0.85 | 2 | ||
rs76810409 | 1.000 | 0.080 | 7 | 109456395 | TF binding site variant | C/T | snv | 2.5E-02 | 1 | ||
rs10774671 | 0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 | 14 | ||
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 | |||
rs779738653 | 1.000 | 0.080 | 8 | 11847083 | frameshift variant | GA/- | delins | 4.0E-05 | 2.8E-05 | 1 | |
rs3212227 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 65 | ||
rs4986938 | 0.641 | 0.600 | 14 | 64233098 | 3 prime UTR variant | C/T | snv | 0.31 | 0.33 | 35 | |
rs568408 | 0.649 | 0.600 | 3 | 159995680 | 3 prime UTR variant | G/A | snv | 0.16 | 29 | ||
rs696 | 0.708 | 0.520 | 14 | 35401887 | 3 prime UTR variant | C/T | snv | 0.45 | 22 | ||
rs10204525 | 0.701 | 0.440 | 2 | 241850169 | 3 prime UTR variant | C/T | snv | 0.21 | 20 | ||
rs3077 | 0.701 | 0.440 | 6 | 33065245 | 3 prime UTR variant | A/G | snv | 0.29 | 16 | ||
rs9277535 | 0.724 | 0.440 | 6 | 33087084 | 3 prime UTR variant | A/G | snv | 0.25 | 13 |