Have questions? Visit https://www.reddit.com/r/SNPedia

rs137852886

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852886(C;C)
Make rs137852886(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position81648876
GeneGBE1
is asnp
is mentioned by
dbSNPrs137852886
ebirs137852886
HLIrs137852886
Exacrs137852886
Varsomers137852886
Maprs137852886
PheGenIrs137852886
hapmaprs137852886
1000 genomesrs137852886
hgdprs137852886
ensemblrs137852886
gopubmedrs137852886
geneviewrs137852886
scholarrs137852886
googlers137852886
pharmgkbrs137852886
gwascentralrs137852886
openSNPrs137852886
23andMers137852886
23andMe allrs137852886
SNP Nexus

SNPshotrs137852886
SNPdbers137852886
MSV3drs137852886
GWAS Ctlgrs137852886
Max Magnitude0
OMIM607839
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852886(C;C)
Alt rs137852886(C;C)
Reference rs137852886(T;T)
Significance Pathogenic
Disease Glycogen storage disease IV Glycogen storage disease Adult polyglucosan body neuropathy
Variation info
Gene GBE1
CLNDBN Glycogen storage disease IV, nonprogressIVe hepatic Glycogen storage disease, type IV Adult polyglucosan body neuropathy
Reversed 1
HGVS NC_000003.11:g.81698027A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002909.5, RCV000056134.1, RCV000210781.3,