Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs7385804 0.851 0.120 7 100638347 intron variant C/A snv 0.65 10
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 2
rs28940298
VHL
0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 4
rs1060499688 0.882 0.200 12 101753399 missense variant A/G snv 4
rs6568431 0.790 0.320 6 106140931 intron variant A/C snv 0.61 3
rs5744256 0.827 0.120 11 112152125 intron variant A/G snv 0.16 1
rs1143634 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 1
rs662799 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 7
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 6
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 6
rs267607201 0.807 0.120 19 12885001 missense variant C/T snv 2
rs3811647
TF
0.807 0.120 3 133765185 intron variant G/A snv 0.31 12
rs41518645
ND6 ; CYTB
0.925 0.200 MT 15257 missense variant G/A snv 1
rs1050829 0.827 0.160 X 154535277 missense variant T/A;C snv 1.7E-04; 2.6E-02 2
rs1050828 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 8
rs1114167422 0.776 0.320 X 154773148 missense variant A/G snv 11
rs747506979
GBA
0.882 0.160 1 155235003 missense variant G/A snv 1.2E-05 4
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 11
rs878853315
GBA
0.925 0.160 1 155236292 missense variant G/C snv 5
rs878853314
GBA
0.882 0.240 1 155239655 missense variant C/G snv 5
rs1559810905 0.827 0.240 2 162273810 missense variant T/A snv 9
rs41469945 0.925 0.080 16 173581 missense variant T/C;G snv 3
rs559063155 0.732 0.280 2 197402110 stop gained T/A;C;G snv 9.0E-05 1
rs3024505 0.790 0.320 1 206766559 upstream gene variant G/A snv 0.11 7
rs17235409 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 1