rs80356763

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	3	Carrier of a Gaucher disease mutation

Make rs80356763(T;T)

Reference

GRCh37 37.1/132

Chromosome

1

Position

155238596

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs80356763
dbSNP (classic)	rs80356763
ClinGen	rs80356763
ebi	rs80356763
HLI	rs80356763
Exac	rs80356763
Gnomad	rs80356763
Varsome	rs80356763
LitVar	rs80356763
Map	rs80356763
PheGenI	rs80356763
Biobank	rs80356763
1000 genomes	rs80356763
hgdp	rs80356763
ensembl	rs80356763
geneview	rs80356763
scholar	rs80356763
google	rs80356763
pharmgkb	rs80356763
gwascentral	rs80356763
openSNP	rs80356763
23andMe	rs80356763
SNPshot	rs80356763
SNPdbe	rs80356763
MSV3d	rs80356763
GWAS Ctlg	rs80356763

Max Magnitude

3

OMIM	606463
Desc
Variant	0042
Related	also

ClinVar
Risk	rs80356763(A;A) rs80356763(T;T)
Alt	rs80356763(A;A) rs80356763(T;T)
Reference	Rs80356763(G;G)
Significance	Pathogenic
Disease	Gaucher disease Gaucher disease
Variation	info
Gene	GBA
CLNDBN	Gaucher disease, perinatal lethal Gaucher disease
Reversed	1
HGVS	NC_000001.10:g.155208387C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004574.3, RCV000020155.1,

[PMID 10685993] Type 2 Gaucher disease: the collodion baby phenotype revisited.