Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs8003311 14 55254556 intergenic variant T/C snv 0.95 1
rs1880889 12 41327433 intron variant A/C snv 0.91 2
rs2169387 8 9323885 intron variant A/G snv 0.87 6
rs9271366 0.807 0.240 6 32619077 intergenic variant G/A snv 0.86 9
rs1572610 14 55413623 3 prime UTR variant G/A;C snv 0.83 1
rs7148669 14 55347628 intron variant G/A snv 0.82 1
rs7025162 1.000 0.080 9 133290774 regulatory region variant T/C snv 0.82 4
rs495828 0.827 0.200 9 133279294 upstream gene variant T/G snv 0.81 24
rs579459 0.752 0.320 9 133278724 upstream gene variant C/T snv 0.81 28
rs7156891 14 54734789 intron variant G/A snv 0.80 1
rs560887 0.827 0.120 2 168906638 intron variant T/C snv 0.79 0.80 18
rs2341534 14 55318019 intron variant G/C snv 0.79 1
rs6498142 16 10987392 intron variant C/G snv 0.77 3
rs1187874 14 55031385 intron variant A/G snv 0.74 1
rs1562064 4 145391948 intergenic variant G/A snv 0.74 2
rs7149317 14 55435824 intron variant G/A snv 0.70 0.72 1
rs1260326 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 81
rs1718309
PAH
12 102848618 intron variant A/G snv 0.67 2
rs2731672 5 177415473 intron variant T/C snv 0.66 6
rs7143800 14 55451016 intron variant A/G snv 0.65 1
rs998871 14 55451584 intron variant G/A snv 0.64 1
rs4901569 14 55446162 intron variant C/T snv 0.64 1
rs172642 17 6692079 intron variant A/C snv 0.64 2
rs1187882 14 55022029 intron variant C/G snv 0.62 1
rs3921 0.807 0.240 4 76021790 3 prime UTR variant C/G snv 0.61 8