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rs192044702

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs192044702(A;G)
Make rs192044702(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position81648854
GeneGBE1
is asnp
is mentioned by
dbSNPrs192044702
ebirs192044702
HLIrs192044702
Exacrs192044702
Varsomers192044702
Maprs192044702
PheGenIrs192044702
hapmaprs192044702
1000 genomesrs192044702
hgdprs192044702
ensemblrs192044702
gopubmedrs192044702
geneviewrs192044702
scholarrs192044702
googlers192044702
pharmgkbrs192044702
gwascentralrs192044702
openSNPrs192044702
23andMers192044702
23andMe allrs192044702
SNP Nexus

SNPshotrs192044702
SNPdbers192044702
MSV3drs192044702
GWAS Ctlgrs192044702
Max Magnitude0
ClinVar
Risk rs192044702(G;G)
Alt rs192044702(G;G)
Reference rs192044702(A;A)
Significance Pathogenic
Disease Glycogen storage disease not provided
Variation info
Gene GBE1
CLNDBN Glycogen storage disease, type IV not provided
Reversed 0
HGVS NC_000003.11:g.81698005A>G
CLNSRC
CLNACC RCV000190589.1, RCV000224184.1,