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rs76763715

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 6 Gaucher's disease, type 1
(C;T) 3 carrier of Gaucher disease allele; increased Parkinson's risk?
(T;T) 0 common in clinvar
ReferenceGRCh37 37.1/132
Chromosome1
Position155205634
GeneGBA
is asnp
is mentioned by
dbSNPrs76763715
ebirs76763715
HLIrs76763715
Exacrs76763715
Varsomers76763715
Maprs76763715
PheGenIrs76763715
hapmaprs76763715
1000 genomesrs76763715
hgdprs76763715
ensemblrs76763715
gopubmedrs76763715
geneviewrs76763715
scholarrs76763715
googlers76763715
pharmgkbrs76763715
gwascentralrs76763715
openSNPrs76763715
23andMers76763715
23andMe allrs76763715
SNP Nexus

SNPshotrs76763715
SNPdbers76763715
MSV3drs76763715
GWAS Ctlgrs76763715
GMAF0.001377
Max Magnitude6

rs76763715, also known as N370S or Asn370Ser, is a SNP in the GBA gene associated with Gaucher disease.

As reported by 23andMe, who use the term i4000415 for this SNP, the N370S mutation is associated only with type 1 Gaucher disease, which usually lacks neurological symptoms. People with either one or two copies of this mutation may have such mild symptoms that their physician never even detects them.

Gaucher's disease Type I (N370S homozygote), the most common, also called the "non-neuropathic" type, occurs mainly in Ashkenazi Jews, at 100 times the occurrence in the general populace. The median age at diagnosis is 28 years of age, and life expectancy is mildly decreased. There are no neurological symptoms. Wikipedia

OMIM606463
Desc
Variant0003
Relatedalso
ClinVar
Risk rs76763715(C,G;C,G)
Alt rs76763715(C,G;C,G)
Reference rs76763715(T;T)
Significance Other
Disease Gaucher's disease Parkinson disease Dementia not provided Gaucher disease
Variation info
Gene GBA
CLNDBN Gaucher's disease, type 1 Parkinson disease, late-onset Dementia, Lewy body, susceptibility to not provided Gaucher disease
Reversed 0
HGVS NC_000001.10:g.155205634T>C; NC_000001.10:g.155205634T>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004515.8, RCV000004516.4, RCV000004517.4, RCV000079336.3, RCV000020146.1,


[PMID 2117855] Mutation analysis of an Ashkenazi Jewish family with Gaucher disease in three successive generations.


[PMID 2309702OA-icon.png] Genotype assignment in Gaucher disease by selective amplification of the active glucocerebrosidase gene.


[PMID 7789963] Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations.


[PMID 8432537] Identification of six new Gaucher disease mutations.


[PMID 9497856] Gaucher's disease: molecular, genetic and enzymological aspects.


[PMID 9554746] Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome.