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rs398123529

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123529(-;-)
Make rs398123529(-;G)
ReferenceGRCh37.p10 37.5/138
Chromosome1
Position155208409
GeneGBA
is asnp
is mentioned by
dbSNPrs398123529
ebirs398123529
HLIrs398123529
Exacrs398123529
Varsomers398123529
Maprs398123529
PheGenIrs398123529
hapmaprs398123529
1000 genomesrs398123529
hgdprs398123529
ensemblrs398123529
gopubmedrs398123529
geneviewrs398123529
scholarrs398123529
googlers398123529
pharmgkbrs398123529
gwascentralrs398123529
openSNPrs398123529
23andMers398123529
23andMe allrs398123529
SNP Nexus

SNPshotrs398123529
SNPdbers398123529
MSV3drs398123529
GWAS Ctlgrs398123529
Max Magnitude0
ClinVar
Risk rs398123529(;)
Alt rs398123529(;)
Reference rs398123529(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.155208409delC
CLNSRC ClinVar
CLNACC RCV000079346.3, RCV000179354.1,