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rs397518433

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397518433(-;-)
Make rs397518433(-;C)
ReferenceGRCh37.p10 37.5/138
Chromosome1
Position155210464
GeneGBA
is asnp
is mentioned by
dbSNPrs397518433
ebirs397518433
HLIrs397518433
Exacrs397518433
Varsomers397518433
Maprs397518433
PheGenIrs397518433
hapmaprs397518433
1000 genomesrs397518433
hgdprs397518433
ensemblrs397518433
gopubmedrs397518433
geneviewrs397518433
scholarrs397518433
googlers397518433
pharmgkbrs397518433
gwascentralrs397518433
openSNPrs397518433
23andMers397518433
23andMe allrs397518433
SNP Nexus

SNPshotrs397518433
SNPdbers397518433
MSV3drs397518433
GWAS Ctlgrs397518433
Max Magnitude0
ClinVar
Risk rs397518433(;)
Alt rs397518433(;)
Reference rs397518433(C;C)
Significance Pathogenic
Disease Gaucher's disease
Variation info
Gene GBA
CLNDBN Gaucher's disease, type 1
Reversed 1
HGVS NC_000001.10:g.155210464delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000004549.4,