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rs398123530

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123530(C;T)
Make rs398123530(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome1
Position155208388
GeneGBA
is asnp
is mentioned by
dbSNPrs398123530
ebirs398123530
HLIrs398123530
Exacrs398123530
Varsomers398123530
Maprs398123530
PheGenIrs398123530
hapmaprs398123530
1000 genomesrs398123530
hgdprs398123530
ensemblrs398123530
gopubmedrs398123530
geneviewrs398123530
scholarrs398123530
googlers398123530
pharmgkbrs398123530
gwascentralrs398123530
openSNPrs398123530
23andMers398123530
23andMe allrs398123530
SNP Nexus

SNPshotrs398123530
SNPdbers398123530
MSV3drs398123530
GWAS Ctlgrs398123530
Max Magnitude0
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
CLNACC RCV000079347.3, RCV000179353.1,