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rs364897

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 Unaffected Genotype
(A;G) 0.5 N188S variant of the GBA gene
(G;G) 1 Homozygous for N188S variant of GBA gene
ReferenceGRCh38 38.1/142
Chromosome1
Position155208006
GeneGBA
is asnp
is mentioned by
dbSNPrs364897
ebirs364897
HLIrs364897
Exacrs364897
Varsomers364897
Maprs364897
PheGenIrs364897
hapmaprs364897
1000 genomesrs364897
hgdprs364897
ensemblrs364897
gopubmedrs364897
geneviewrs364897
scholarrs364897
googlers364897
pharmgkbrs364897
gwascentralrs364897
openSNPrs364897
23andMers364897
23andMe allrs364897
SNP Nexus

SNPshotrs364897
SNPdbers364897
MSV3drs364897
GWAS Ctlgrs364897
GMAF0.0004591
Max Magnitude1
? (A;A) (A;G) (G;G) 28
rs364897, also known as c.680A>G, Asn188Ser or N188S, is a variant in the GBA gene which has been associated with Gaucher's Disease.

rs364897(G;G) has been observed in Korean and Taiwanese subjects with type I Gaucher disease.[PMID 8829654]

It may be a relatively mild defect in the gene, since the encoded enzyme appears to retain most of its function.[PMID 15146461]

OMIM606463
Desc
Variant0026
Relatedalso


ClinVar
Risk rs364897(G;G)
Alt rs364897(G;G)
Reference rs364897(A;A)
Significance Pathogenic
Disease Gaucher's disease Subacute neuronopathic Gaucher's disease Gaucher disease
Variation info
Gene GBA
CLNDBN Gaucher's disease, type 1 Subacute neuronopathic Gaucher's disease Gaucher disease
Reversed 1
HGVS NC_000001.10:g.155208006T>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004557.6, RCV000004558.4, RCV000020156.1,



[PMID 25992311OA-icon.png] Genetic variants and risk of gastric cancer: a pathway analysis of a genome-wide association study