rs76539814

Orientation

minus

Stabilized

minus

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

Make rs76539814(T;T)

Reference

GRCh38 38.1/142

Chromosome

1

Position

155236384

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs76539814
dbSNP (classic)	rs76539814
ClinGen	rs76539814
ebi	rs76539814
HLI	rs76539814
Exac	rs76539814
Gnomad	rs76539814
Varsome	rs76539814
LitVar	rs76539814
Map	rs76539814
PheGenI	rs76539814
Biobank	rs76539814
1000 genomes	rs76539814
hgdp	rs76539814
ensembl	rs76539814
geneview	rs76539814
scholar	rs76539814
google	rs76539814
pharmgkb	rs76539814
gwascentral	rs76539814
openSNP	rs76539814
23andMe	rs76539814
SNPshot	rs76539814
SNPdbe	rs76539814
MSV3d	rs76539814
GWAS Ctlg	rs76539814

Max Magnitude

3

OMIM	606463
Desc
Variant	0017
Related	also

ClinVar
Risk	rs76539814(T;T)
Alt	rs76539814(T;T)
Reference	Rs76539814(C;C)
Significance	Pathogenic
Disease	Gaucher's disease Acute neuronopathic Gaucher's disease
Variation	info
Gene	GBA
CLNDBN	Gaucher's disease, type 1 Acute neuronopathic Gaucher's disease
Reversed	1
HGVS	NC_000001.10:g.155206175G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004548.6, RCV000041967.6,