Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs17855750
IL27
0.695 0.480 16 28503907 missense variant A/C;T snv 6.4E-02; 4.0E-06 21
rs12921862
AXIN1
0.763 0.200 16 331927 intron variant C/A snv 0.18 10
rs4758680
LRRC43
0.763 0.320 12 122170805 intron variant T/A;G snv 9
rs2304277
OGG1 ; CAMK1
0.776 0.280 3 9759396 non coding transcript exon variant G/A snv 0.26 8
rs3957357
GSTA1
0.807 0.280 6 52803889 upstream gene variant A/G snv 0.63 7
rs1056892
CBR3-AS1 ; CBR3
0.882 0.160 21 36146408 missense variant G/A snv 0.37 0.39 6
rs2292016
OSMR-AS1 ; OSMR
0.851 0.120 5 38845758 non coding transcript exon variant G/T snv 1.9E-02 5
rs2278329
OSMR
0.851 0.120 5 38921686 missense variant G/A snv 3.3E-02 2.2E-02 4
rs11685068
GLI2
1.000 0.120 2 120783436 intron variant C/G;T snv 1
rs3801192
GLI3
1.000 0.120 7 42121928 intron variant C/T snv 9.5E-02 1
rs6463089
GLI3
1.000 0.120 7 42113257 intron variant G/A snv 0.11 1
rs1233560
SHH
1.000 0.120 7 155800744 3 prime UTR variant G/A snv 0.49 1