rs80356772

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs80356772(A;A)

Make rs80356772(A;G)

Reference

GRCh37.p5 37.3/137

Chromosome

1

Position

155235195

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs80356772
dbSNP (classic)	rs80356772
ClinGen	rs80356772
ebi	rs80356772
HLI	rs80356772
Exac	rs80356772
Gnomad	rs80356772
Varsome	rs80356772
LitVar	rs80356772
Map	rs80356772
PheGenI	rs80356772
Biobank	rs80356772
1000 genomes	rs80356772
hgdp	rs80356772
ensembl	rs80356772
geneview	rs80356772
scholar	rs80356772
google	rs80356772
pharmgkb	rs80356772
gwascentral	rs80356772
openSNP	rs80356772
23andMe	rs80356772
SNPshot	rs80356772
SNPdbe	rs80356772
MSV3d	rs80356772
GWAS Ctlg	rs80356772

Max Magnitude

0

ClinVar
Risk	rs80356772(A;A)
Alt	rs80356772(A;A)
Reference	Rs80356772(G;G)
Significance	Pathogenic
Disease	Gaucher disease Gaucher's disease
Variation	info
Gene	GBA
CLNDBN	Gaucher disease Gaucher's disease, type 1
Reversed	1
HGVS	NC_000001.10:g.155204986C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020152.1, RCV000409564.1,

[PMID 17427031] Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain.