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rs397518434

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397518434(-;-)
Make rs397518434(-;C)
ReferenceGRCh37.p10 37.5/138
Chromosome1
Position155208364
GeneGBA
is asnp
is mentioned by
dbSNPrs397518434
ebirs397518434
HLIrs397518434
Exacrs397518434
Varsomers397518434
Maprs397518434
PheGenIrs397518434
hapmaprs397518434
1000 genomesrs397518434
hgdprs397518434
ensemblrs397518434
gopubmedrs397518434
geneviewrs397518434
scholarrs397518434
googlers397518434
pharmgkbrs397518434
gwascentralrs397518434
openSNPrs397518434
23andMers397518434
23andMe allrs397518434
SNP Nexus

SNPshotrs397518434
SNPdbers397518434
MSV3drs397518434
GWAS Ctlgrs397518434
Max Magnitude0
ClinVar
Risk rs397518434(;)
Alt rs397518434(;)
Reference rs397518434(C;C)
Significance Pathogenic
Disease Gaucher disease
Variation info
Gene GBA
CLNDBN Gaucher disease, perinatal lethal
Reversed 1
HGVS NC_000001.10:g.155208364delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000004566.5,