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
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 72
rs10757278
CDKN2B-AS1
0.620 0.520 9 22124478 intron variant A/G snv 0.40 44
rs800292
CFH
0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 33
rs3764261 0.732 0.280 16 56959412 upstream gene variant C/A snv 0.31 26
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
rs1410996
CFH
0.807 0.240 1 196727803 intron variant G/A snv 0.46 11
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
rs1136287
SERPINF1
0.790 0.280 17 1769982 missense variant C/T snv 0.61 0.69 8
rs1042229
FPR1
0.790 0.280 19 51746419 missense variant A/C;G snv 0.32; 0.13 7
rs641153
CFB ; CYP21A2
0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06 7
rs2293870
LOC105378525 ; HTRA1
0.851 0.160 10 122461760 synonymous variant G/C;T snv 5.9E-02; 0.32 4
rs2672598
HTRA1 ; LOC105378525
0.851 0.160 10 122461166 non coding transcript exon variant T/C snv 0.49 4
rs429608
CYP21A2 ; SKIV2L
0.851 0.160 6 31962685 intron variant G/A snv 0.14 0.16 4
rs2301995
ELN
0.882 0.160 7 74037810 non coding transcript exon variant G/A snv 0.11 3
rs2511989
SERPING1
0.882 0.160 11 57610852 intron variant C/T snv 0.39 3
rs547154
CYP21A2 ; C2 ; C2-AS1
0.882 0.160 6 31943161 intron variant G/T snv 0.12 3
rs78488639
FPR1
0.882 0.160 19 51746706 missense variant G/A;T snv 1.2E-05; 8.6E-03 3
rs867229
FPR1
0.882 0.160 19 51745746 3 prime UTR variant G/A;T snv 3