Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs191284403 1.000 0.120 13 83878728 3 prime UTR variant C/A;T snv 1
rs1922786 1.000 0.120 2 58636438 intron variant A/G snv 0.29 1
rs2433718 1.000 0.120 2 107986975 intron variant A/G snv 0.82 1
rs2504235 1.000 0.120 13 28038749 intron variant A/C;G snv 1
rs267606861
HDC
1.000 0.120 15 50252520 stop gained C/T snv 1
rs2708146 1.000 0.120 2 58728818 intron variant A/G snv 0.47 1
rs3793798 1.000 0.120 10 49663420 intron variant T/A;C snv 1
rs4047771 1.000 0.120 4 177549744 intron variant A/C snv 0.28 1
rs4676169 1.000 0.120 2 107993689 intron variant A/G snv 0.46 1
rs4979356 1.000 0.120 9 114228704 intron variant C/G;T snv 1
rs4979357 1.000 0.120 9 114228715 intron variant T/A;C snv 1
rs621942 1.000 0.120 11 86072696 upstream gene variant C/A snv 0.26 1
rs6591256 1.000 0.120 11 67582428 upstream gene variant A/G snv 0.38 1
rs72853320 1.000 0.120 6 36655561 regulatory region variant G/A snv 0.20 1
rs7868992 1.000 0.120 9 114228791 intron variant G/A snv 0.63 1
rs61752115 0.807 0.320 2 61048535 missense variant T/C snv 4.0E-06 7
rs779610480 1.000 0.120 13 83880800 synonymous variant G/A;T snv 4.0E-06; 8.0E-06 1
rs1805404 0.882 0.200 1 226402257 missense variant G/A;C snv 0.22; 4.0E-06 3
rs315952 0.763 0.400 2 113132727 missense variant T/A;C snv 4.0E-06; 0.31 10
rs5569 0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 19
rs746682028 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 36
rs759834365 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs28365054 1.000 0.120 14 89963514 missense variant G/A;C snv 3.9E-02; 6.6E-05 1
rs28914832 0.925 0.120 17 30211356 missense variant T/C;G snv 7.4E-04 3
rs1800044 0.827 0.200 5 63961061 missense variant C/A snv 3.7E-03 3.8E-03 8