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rs398123528

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123528(G;T)
Make rs398123528(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome1
Position155205620
GeneGBA
is asnp
is mentioned by
dbSNPrs398123528
ebirs398123528
HLIrs398123528
Exacrs398123528
Varsomers398123528
Maprs398123528
PheGenIrs398123528
hapmaprs398123528
1000 genomesrs398123528
hgdprs398123528
ensemblrs398123528
gopubmedrs398123528
geneviewrs398123528
scholarrs398123528
googlers398123528
pharmgkbrs398123528
gwascentralrs398123528
openSNPrs398123528
23andMers398123528
23andMe allrs398123528
SNP Nexus

SNPshotrs398123528
SNPdbers398123528
MSV3drs398123528
GWAS Ctlgrs398123528
Max Magnitude0
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
CLNACC RCV000079337.3, RCV000173717.1,