rs398123527

Orientation

minus

Stabilized

minus

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

Make rs398123527(C;C)

Make rs398123527(C;G)

Reference

GRCh37.p10 37.5/138

Chromosome

1

Position

155236298

Gene

GBA

is a	snp
is	mentioned by
dbSNP	rs398123527
dbSNP (classic)	rs398123527
ClinGen	rs398123527
ebi	rs398123527
HLI	rs398123527
Exac	rs398123527
Gnomad	rs398123527
Varsome	rs398123527
LitVar	rs398123527
Map	rs398123527
PheGenI	rs398123527
Biobank	rs398123527
1000 genomes	rs398123527
hgdp	rs398123527
ensembl	rs398123527
geneview	rs398123527
scholar	rs398123527
google	rs398123527
pharmgkb	rs398123527
gwascentral	rs398123527
openSNP	rs398123527
23andMe	rs398123527
SNPshot	rs398123527
SNPdbe	rs398123527
MSV3d	rs398123527
GWAS Ctlg	rs398123527

Max Magnitude

0

ClinVar
Risk	rs398123527(C;C)
Alt	rs398123527(C;C)
Reference	Rs398123527(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.155206089C>G
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000079333.3, RCV000180534.1,