rs398123528

Orientation

minus

Stabilized

minus

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

Make rs398123528(G;T)

Make rs398123528(T;T)

Reference

GRCh37.p10 37.5/138

Chromosome

1

Position

155235829

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs398123528
dbSNP (classic)	rs398123528
ClinGen	rs398123528
ebi	rs398123528
HLI	rs398123528
Exac	rs398123528
Gnomad	rs398123528
Varsome	rs398123528
LitVar	rs398123528
Map	rs398123528
PheGenI	rs398123528
Biobank	rs398123528
1000 genomes	rs398123528
hgdp	rs398123528
ensembl	rs398123528
geneview	rs398123528
scholar	rs398123528
google	rs398123528
pharmgkb	rs398123528
gwascentral	rs398123528
openSNP	rs398123528
23andMe	rs398123528
SNPshot	rs398123528
SNPdbe	rs398123528
MSV3d	rs398123528
GWAS Ctlg	rs398123528

Max Magnitude

0

ClinVar
Risk	rs398123528(T;T)
Alt	rs398123528(T;T)
Reference	Rs398123528(G;G)
Significance	Probable-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.155205620C>A
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000079337.3, RCV000173717.1,