Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs662 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 157 | |
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 134 | ||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 99 | |
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs3212986 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 42 | ||
rs3834129 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 38 | ||
rs4759314 | 0.649 | 0.440 | 12 | 53968051 | non coding transcript exon variant | G/A | snv | 0.93 | 31 | ||
rs3783553 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 26 | |||
rs2302254 | 0.752 | 0.240 | 17 | 51153539 | 5 prime UTR variant | C/T | snv | 0.22 | 15 | ||
rs2303428 | 0.776 | 0.240 | 2 | 47476361 | splice region variant | T/A;C;G | snv | 4.0E-06; 0.12 | 9 |