rs397518433

Orientation

minus

Stabilized

minus

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

Make rs397518433(-;-)

Reference

GRCh37.p10 37.5/138

Chromosome

1

Position

155240673

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs397518433
dbSNP (classic)	rs397518433
ClinGen	rs397518433
ebi	rs397518433
HLI	rs397518433
Exac	rs397518433
Gnomad	rs397518433
Varsome	rs397518433
LitVar	rs397518433
Map	rs397518433
PheGenI	rs397518433
Biobank	rs397518433
1000 genomes	rs397518433
hgdp	rs397518433
ensembl	rs397518433
geneview	rs397518433
scholar	rs397518433
google	rs397518433
pharmgkb	rs397518433
gwascentral	rs397518433
openSNP	rs397518433
23andMe	rs397518433
SNPshot	rs397518433
SNPdbe	rs397518433
MSV3d	rs397518433
GWAS Ctlg	rs397518433

Max Magnitude

3

ClinVar
Risk	rs397518433(-;-)
Alt	rs397518433(-;-)
Reference	Rs397518433(C;C)
Significance	Pathogenic
Disease	Gaucher's disease
Variation	info
Gene	GBA
CLNDBN	Gaucher's disease, type 1
Reversed	1
HGVS	NC_000001.10:g.155210464delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004549.5,