rs398123530

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs398123530(C;T)

Make rs398123530(T;T)

Reference

GRCh37.p10 37.5/138

Chromosome

1

Position

155238597

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs398123530
dbSNP (classic)	rs398123530
ClinGen	rs398123530
ebi	rs398123530
HLI	rs398123530
Exac	rs398123530
Gnomad	rs398123530
Varsome	rs398123530
LitVar	rs398123530
Map	rs398123530
PheGenI	rs398123530
Biobank	rs398123530
1000 genomes	rs398123530
hgdp	rs398123530
ensembl	rs398123530
geneview	rs398123530
scholar	rs398123530
google	rs398123530
pharmgkb	rs398123530
gwascentral	rs398123530
openSNP	rs398123530
23andMe	rs398123530
SNPshot	rs398123530
SNPdbe	rs398123530
MSV3d	rs398123530
GWAS Ctlg	rs398123530

Max Magnitude

0

ClinVar
Risk	rs398123530(T;T)
Alt	rs398123530(T;T)
Reference	Rs398123530(C;C)
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.155208388G>A
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000079347.3, RCV000179353.1,