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rs398123526

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123526(C;C)
Make rs398123526(C;G)
ReferenceGRCh37.p10 37.5/138
Chromosome1
Position155206200
GeneGBA
is asnp
is mentioned by
dbSNPrs398123526
ebirs398123526
HLIrs398123526
Exacrs398123526
Varsomers398123526
Maprs398123526
PheGenIrs398123526
hapmaprs398123526
1000 genomesrs398123526
hgdprs398123526
ensemblrs398123526
gopubmedrs398123526
geneviewrs398123526
scholarrs398123526
googlers398123526
pharmgkbrs398123526
gwascentralrs398123526
openSNPrs398123526
23andMers398123526
23andMe allrs398123526
SNP Nexus

SNPshotrs398123526
SNPdbers398123526
MSV3drs398123526
GWAS Ctlgrs398123526
Max Magnitude0
ClinVar
Risk rs398123526(A;A) rs398123526(C;C)
Alt rs398123526(A;A) rs398123526(C;C)
Reference Rs398123526(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.155206200C>G
CLNSRC HGMD UniProtKB (protein)
CLNACC RCV000079330.3, RCV000180536.1,