rs364897

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/142

Chromosome

1

Position

155238215

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs364897
dbSNP (classic)	rs364897
ClinGen	rs364897
ebi	rs364897
HLI	rs364897
Exac	rs364897
Gnomad	rs364897
Varsome	rs364897
LitVar	rs364897
Map	rs364897
PheGenI	rs364897
Biobank	rs364897
1000 genomes	rs364897
hgdp	rs364897
ensembl	rs364897
geneview	rs364897
scholar	rs364897
google	rs364897
pharmgkb	rs364897
gwascentral	rs364897
openSNP	rs364897
23andMe	rs364897
SNPshot	rs364897
SNPdbe	rs364897
MSV3d	rs364897
GWAS Ctlg	rs364897

GMAF

0.0004591

Max Magnitude

1

?	(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]

OMIM	606463
Desc
Variant	0026
Related	also

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 UniProtKB (protein)
CLNACC	RCV000004557.7, RCV000004558.5, RCV000020156.1,

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