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rs398123534

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123534(A;A)
Make rs398123534(A;G)
ReferenceGRCh37.p10 37.5/138
Chromosome1
Position155207965
GeneGBA
is asnp
is mentioned by
dbSNPrs398123534
ebirs398123534
HLIrs398123534
Exacrs398123534
Varsomers398123534
Maprs398123534
PheGenIrs398123534
hapmaprs398123534
1000 genomesrs398123534
hgdprs398123534
ensemblrs398123534
gopubmedrs398123534
geneviewrs398123534
scholarrs398123534
googlers398123534
pharmgkbrs398123534
gwascentralrs398123534
openSNPrs398123534
23andMers398123534
23andMe allrs398123534
SNP Nexus

SNPshotrs398123534
SNPdbers398123534
MSV3drs398123534
GWAS Ctlgrs398123534
Max Magnitude0
ClinVar
Risk rs398123534(A;A)
Alt rs398123534(A;A)
Reference rs398123534(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
CLNACC RCV000079354.3, RCV000179794.1,