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rs398123527

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123527(C;C)
Make rs398123527(C;G)
ReferenceGRCh37.p10 37.5/138
Chromosome1
Position155206089
GeneGBA
is asnp
is mentioned by
dbSNPrs398123527
ebirs398123527
HLIrs398123527
Exacrs398123527
Varsomers398123527
Maprs398123527
PheGenIrs398123527
hapmaprs398123527
1000 genomesrs398123527
hgdprs398123527
ensemblrs398123527
gopubmedrs398123527
geneviewrs398123527
scholarrs398123527
googlers398123527
pharmgkbrs398123527
gwascentralrs398123527
openSNPrs398123527
23andMers398123527
23andMe allrs398123527
SNP Nexus

SNPshotrs398123527
SNPdbers398123527
MSV3drs398123527
GWAS Ctlgrs398123527
Max Magnitude0
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
CLNACC RCV000079333.3, RCV000180534.1,