Disease: Glycogen storage disease type II
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 72
rs3732378
CX3CR1
0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12 48
rs800292
CFH
0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 33
rs10490924
ARMS2 ; LOC105378525
0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 16
rs11200638
LOC105378525 ; HTRA1
0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 14
rs2230199
C3
0.763 0.240 19 6718376 missense variant G/C;T snv 0.15 10
rs9332739
CYP21A2 ; C2-AS1 ; C2
0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02 10
rs4151667
CFB ; CYP21A2
0.790 0.320 6 31946247 missense variant T/A snv 3.9E-02 3.4E-02 9
rs641153
CFB ; CYP21A2
0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06 7
rs61941274
ACAD10
0.827 0.160 12 111694806 intron variant G/A;T snv 5