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rs80356763

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356763(G;T)
Make rs80356763(T;T)
ReferenceGRCh37 37.1/132
Chromosome1
Position155208387
GeneGBA
is asnp
is mentioned by
dbSNPrs80356763
ebirs80356763
HLIrs80356763
Exacrs80356763
Varsomers80356763
Maprs80356763
PheGenIrs80356763
hapmaprs80356763
1000 genomesrs80356763
hgdprs80356763
ensemblrs80356763
gopubmedrs80356763
geneviewrs80356763
scholarrs80356763
googlers80356763
pharmgkbrs80356763
gwascentralrs80356763
openSNPrs80356763
23andMers80356763
23andMe allrs80356763
SNP Nexus

SNPshotrs80356763
SNPdbers80356763
MSV3drs80356763
GWAS Ctlgrs80356763
Max Magnitude0
OMIM606463
Desc
Variant0042
Relatedalso
ClinVar
Risk rs80356763(A,T;A,T)
Alt rs80356763(A,T;A,T)
Reference rs80356763(G;G)
Significance Pathogenic
Disease Gaucher disease Gaucher disease
Variation info
Gene GBA
CLNDBN Gaucher disease, perinatal lethal Gaucher disease
Reversed 1
HGVS NC_000001.10:g.155208387C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004574.2, RCV000020155.1,


[PMID 10685993OA-icon.png] Type 2 Gaucher disease: the collodion baby phenotype revisited.