Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs2234759 1.000 0.120 4 155208405 non coding transcript exon variant A/C;G snv 1
rs82333
HTT
1.000 0.120 4 3223662 intron variant A/C;G snv 1
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs363092
HTT
1.000 0.120 4 3194302 intron variant A/C;T snv 0.51 2
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 81
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 63
rs20541 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 52
rs2241880 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 37
rs3742330 0.662 0.640 14 95087025 3 prime UTR variant A/G snv 8.7E-02 24
rs7652589 0.732 0.400 3 122170241 downstream gene variant A/G snv 0.60 13
rs2297235 0.752 0.320 10 104274733 5 prime UTR variant A/G snv 0.22 11
rs360719 0.790 0.480 11 112165426 non coding transcript exon variant A/G snv 0.25 7
rs1382597320 0.882 0.160 12 6934305 missense variant A/G snv 7.0E-06 3
rs10881578 0.925 0.240 9 134340689 intron variant A/G snv 0.32 2
rs1277892620 0.925 0.120 17 37242036 synonymous variant A/G snv 4.0E-06 7.0E-06 2
rs10015979
HTT
1.000 0.120 4 3107715 intron variant A/G snv 0.30 1
rs1313770 1.000 0.120 4 3056082 intron variant A/G snv 0.57 1
rs1730768 1.000 0.120 4 3407632 intron variant A/G snv 0.85 1
rs2285086
HTT
1.000 0.120 4 3087532 intron variant A/G snv 0.48 1
rs2798296 1.000 0.120 4 3060438 intron variant A/G snv 0.44 1
rs3129319 1.000 0.120 4 3263654 intron variant A/G snv 0.37 1
rs762847 1.000 0.120 4 2910336 intron variant A/G snv 0.54 1
rs10719 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 24