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rs80356769

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 carrier of Gaucher disease allele
(T;T) 5 Gaucher disease
ReferenceGRCh37 37.1/132
Chromosome1
Position155205563
GeneGBA
is asnp
is mentioned by
dbSNPrs80356769
ebirs80356769
HLIrs80356769
Exacrs80356769
Varsomers80356769
Maprs80356769
PheGenIrs80356769
hapmaprs80356769
1000 genomesrs80356769
hgdprs80356769
ensemblrs80356769
gopubmedrs80356769
geneviewrs80356769
scholarrs80356769
googlers80356769
pharmgkbrs80356769
gwascentralrs80356769
openSNPrs80356769
23andMers80356769
23andMe allrs80356769
SNP Nexus

SNPshotrs80356769
SNPdbers80356769
MSV3drs80356769
GWAS Ctlgrs80356769
Max Magnitude5

rs80356769, also known as V394L or Val394Leu, is a SNP in the GBA gene associated with Gaucher disease.

As reported by 23andMe, who use the term i4000419 for this SNP, the V394L mutation is found in about 1 out of 1,000 Ashkenazi Jews.

OMIM606463
Desc
Variant0005
Relatedalso
ClinVar
Risk rs80356769(T;T)
Alt rs80356769(T;T)
Reference rs80356769(G;G)
Significance Pathogenic
Disease Subacute neuronopathic Gaucher's disease Gaucher's disease Gaucher disease
Variation info
Gene GBA
CLNDBN Subacute neuronopathic Gaucher's disease Gaucher's disease, type 1 Gaucher disease
Reversed 1
HGVS NC_000001.10:g.155205563C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004520.2, RCV000004521.2, RCV000020148.1,


[PMID 2349952OA-icon.png] Complex alleles of the acid beta-glucosidase gene in Gaucher disease.

[PMID 2508065OA-icon.png] Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene.