rs409652

Orientation

minus

Stabilized

minus

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

Make rs409652(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

155238174

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs409652
dbSNP (classic)	rs409652
ClinGen	rs409652
ebi	rs409652
HLI	rs409652
Exac	rs409652
Gnomad	rs409652
Varsome	rs409652
LitVar	rs409652
Map	rs409652
PheGenI	rs409652
Biobank	rs409652
1000 genomes	rs409652
hgdp	rs409652
ensembl	rs409652
geneview	rs409652
scholar	rs409652
google	rs409652
pharmgkb	rs409652
gwascentral	rs409652
openSNP	rs409652
23andMe	rs409652
SNPshot	rs409652
SNPdbe	rs409652
MSV3d	rs409652
GWAS Ctlg	rs409652

Merged from

Rs398123534

Max Magnitude

3

ClinVar
Risk	rs409652(A;A)
Alt	rs409652(A;A)
Reference	Rs409652(G;G)
Significance	Pathogenic
Disease	not provided Gaucher's disease
Variation	info
Gene	GBA
CLNDBN	not provided Gaucher's disease, type 1
Reversed	1
HGVS	NC_000001.10:g.155207965C>T
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000079354.3, RCV000179794.1,