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
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
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
rs699947
VEGFA
0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs4073
CXCL8
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 64
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 63
rs3732378
CX3CR1
0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12 48
rs10757278
CDKN2B-AS1
0.620 0.520 9 22124478 intron variant A/G snv 0.40 44
rs1138272
GSTP1
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 42
rs833061
VEGFA
0.605 0.600 6 43769749 upstream gene variant C/G;T snv 42
rs800292
CFH
0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 33
rs2071559
KDR
0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53 26
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
rs121434491
EFEMP1 ; LOC112268416
0.752 0.200 2 55871091 missense variant G/A snv 15
rs11200638
LOC105378525 ; HTRA1
0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 14
rs2146323
VEGFA
0.752 0.480 6 43777358 non coding transcript exon variant C/A snv 0.31 13
rs12153855
TNXB
0.776 0.320 6 32107027 intron variant T/C snv 0.11 11
rs1410996
CFH
0.807 0.240 1 196727803 intron variant G/A snv 0.46 11
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
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