rs80356771

Orientation

minus

Stabilized

minus

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

Make rs80356771(T;T)

Reference

GRCh37 37.1/132

Chromosome

1

Position

155235196

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs80356771
dbSNP (classic)	rs80356771
ClinGen	rs80356771
ebi	rs80356771
HLI	rs80356771
Exac	rs80356771
Gnomad	rs80356771
Varsome	rs80356771
LitVar	rs80356771
Map	rs80356771
PheGenI	rs80356771
Biobank	rs80356771
1000 genomes	rs80356771
hgdp	rs80356771
ensembl	rs80356771
geneview	rs80356771
scholar	rs80356771
google	rs80356771
pharmgkb	rs80356771
gwascentral	rs80356771
openSNP	rs80356771
23andMe	rs80356771
SNPshot	rs80356771
SNPdbe	rs80356771
MSV3d	rs80356771
GWAS Ctlg	rs80356771

Max Magnitude

3

OMIM	606463
Desc
Variant	0008
Related	also

ClinVar
Risk	rs80356771(A;A) rs80356771(T;T)
Alt	rs80356771(A;A) rs80356771(T;T)
Reference	Rs80356771(C;C)
Significance	Other
Disease	Gaucher's disease Acute neuronopathic Gaucher's disease Subacute neuronopathic Gaucher's disease Parkinson disease Gaucher disease not provided
Variation	info
Gene	GBA
CLNDBN	Gaucher's disease, type 1 Acute neuronopathic Gaucher's disease Subacute neuronopathic Gaucher's disease Parkinson disease, late-onset Gaucher disease not provided
Reversed	1
HGVS	NC_000001.10:g.155204987G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004528.6, RCV000004529.5, RCV000004530.5, RCV000004531.5, RCV000020151.1, RCV000079343.4,

[PMID 1972019] Sequence of two alleles responsible for Gaucher disease.