Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1260326
GCKR
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 81
rs28929474
SERPINA1
0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 37
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv 34
rs1047891
CPS1
0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 34
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 33
rs579459 0.752 0.320 9 133278724 upstream gene variant C/T snv 0.81 28
rs495828 0.827 0.200 9 133279294 upstream gene variant T/G snv 0.81 24
rs635634 0.882 0.160 9 133279427 upstream gene variant T/A;C snv 22
rs657152
ABO
0.882 0.200 9 133263862 intron variant A/C;T snv 22
rs2187668
LOC107986589 ; HLA-DQA2 ; HLA-DQA1
0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03 20
rs687621
ABO
0.851 0.240 9 133261662 intron variant G/A;C snv 18
rs560887
SPC25 ; G6PC2
0.827 0.120 2 168906638 intron variant T/C snv 0.79 0.80 18
rs687289
ABO
1.000 0.120 9 133261703 intron variant A/G snv 15
rs4644
LGALS3
0.732 0.320 14 55138217 missense variant C/A;G snv 0.35 14
rs529565
ABO
0.851 0.120 9 133274084 intron variant C/T snv 13
rs4652
LGALS3
0.752 0.200 14 55138318 missense variant A/C snv 4.1E-06; 0.45 0.57 12
rs649129 1.000 0.080 9 133278860 upstream gene variant T/C;G snv 10
rs514659
ABO
0.882 0.120 9 133266790 intron variant C/A;T snv 10
rs612169
ABO
9 133268030 intron variant G/A snv 10
rs9271366 0.807 0.240 6 32619077 intergenic variant G/A snv 0.86 9
rs630014
ABO
9 133274306 intron variant G/A;C snv 9
rs8176693
ABO
0.851 0.160 9 133262254 intron variant C/T snv 9.9E-02 9
rs2079742
BCAS3
0.851 0.240 17 61388336 non coding transcript exon variant T/C snv 0.20 9
rs2657879
GLS2 ; SPRYD4
1.000 0.080 12 56471554 missense variant A/G snv 0.17 0.15 9
rs545971
ABO
9 133267960 intron variant T/A;C snv 8