Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6431588 | 0.925 | 0.040 | 2 | 238185147 | intron variant | T/C;G | snv | 0.86 | 0.85 | 2 | |
rs2306574 | 1.000 | 0.040 | 3 | 53188745 | synonymous variant | C/T | snv | 0.75 | 0.75 | 1 | |
rs1982151 | 0.807 | 0.120 | 9 | 84002350 | missense variant | A/G;T | snv | 0.73 | 9 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs16891982 | 0.776 | 0.200 | 5 | 33951588 | missense variant | C/A;G | snv | 0.65 | 13 | ||
rs2228001 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 60 | |
rs2227981 | 0.763 | 0.400 | 2 | 241851121 | synonymous variant | A/C;G | snv | 1.6E-04; 0.63 | 12 | ||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs2536512 | 0.752 | 0.280 | 4 | 24799693 | missense variant | G/A;T | snv | 0.55 | 14 | ||
rs7041 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 64 | ||
rs7975232 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 56 | |
rs1129038 | 0.851 | 0.120 | 15 | 28111713 | 3 prime UTR variant | C/T | snv | 0.49 | 0.50 | 8 | |
rs2733832 | 1.000 | 0.040 | 9 | 12704725 | intron variant | C/A;G;T | snv | 8.0E-06; 0.45 | 1 | ||
rs13006529 | 0.851 | 0.080 | 2 | 201217736 | missense variant | T/A | snv | 0.41 | 0.42 | 7 | |
rs6465657 | 0.807 | 0.280 | 7 | 98187015 | intron variant | C/T | snv | 0.41 | 0.37 | 7 | |
rs7023954 | 0.925 | 0.040 | 9 | 21816759 | missense variant | G/A | snv | 0.40 | 0.42 | 2 | |
rs3803185 | 0.708 | 0.320 | 13 | 49630889 | missense variant | T/C;G | snv | 0.39 | 19 | ||
rs4646536 | 0.724 | 0.440 | 12 | 57764205 | intron variant | A/G | snv | 0.38 | 0.32 | 14 | |
rs1063045 | 1.000 | 0.040 | 8 | 89982791 | synonymous variant | C/T | snv | 0.35 | 0.33 | 1 | |
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs2301641 | 1.000 | 0.040 | 7 | 20658647 | missense variant | A/G | snv | 0.33 | 0.40 | 1 | |
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 134 | ||
rs12628 | 0.776 | 0.160 | 11 | 534242 | synonymous variant | A/G | snv | 0.32 | 0.34 | 10 |