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rs80356771

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356771(C;T)
Make rs80356771(T;T)
ReferenceGRCh37 37.1/132
Chromosome1
Position155204987
GeneGBA
is asnp
is mentioned by
dbSNPrs80356771
ebirs80356771
HLIrs80356771
Exacrs80356771
Varsomers80356771
Maprs80356771
PheGenIrs80356771
hapmaprs80356771
1000 genomesrs80356771
hgdprs80356771
ensemblrs80356771
gopubmedrs80356771
geneviewrs80356771
scholarrs80356771
googlers80356771
pharmgkbrs80356771
gwascentralrs80356771
openSNPrs80356771
23andMers80356771
23andMe allrs80356771
SNP Nexus

SNPshotrs80356771
SNPdbers80356771
MSV3drs80356771
GWAS Ctlgrs80356771
Max Magnitude0
OMIM606463
Desc
Variant0008
Relatedalso
ClinVar
Risk rs80356771(A,T;A,T)
Alt rs80356771(A,T;A,T)
Reference rs80356771(C;C)
Significance Other
Disease Gaucher's disease Acute neuronopathic Gaucher's disease Subacute neuronopathic Gaucher's disease Parkinson disease Gaucher disease not provided
Variation info
Gene GBA
CLNDBN Gaucher's disease, type 1 Acute neuronopathic Gaucher's disease Subacute neuronopathic Gaucher's disease Parkinson disease, late-onset Gaucher disease not provided
Reversed 1
HGVS NC_000001.10:g.155204987G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004528.5, RCV000004529.4, RCV000004530.4, RCV000004531.4, RCV000020151.1, RCV000079343.3,


[PMID 1972019] Sequence of two alleles responsible for Gaucher disease.