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rs397515515

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515515(C;T)
Make rs397515515(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome1
Position155208421
GeneGBA
is asnp
is mentioned by
dbSNPrs397515515
ebirs397515515
HLIrs397515515
Exacrs397515515
Varsomers397515515
Maprs397515515
PheGenIrs397515515
hapmaprs397515515
1000 genomesrs397515515
hgdprs397515515
ensemblrs397515515
gopubmedrs397515515
geneviewrs397515515
scholarrs397515515
googlers397515515
pharmgkbrs397515515
gwascentralrs397515515
openSNPrs397515515
23andMers397515515
23andMe allrs397515515
SNP Nexus

SNPshotrs397515515
SNPdbers397515515
MSV3drs397515515
GWAS Ctlgrs397515515
Max Magnitude0
ClinVar
Risk rs397515515(T;T)
Alt rs397515515(T;T)
Reference rs397515515(C;C)
Significance Pathogenic
Disease Gaucher disease not provided Gaucher's disease
Variation info
Gene GBA
CLNDBN Gaucher disease not provided Gaucher's disease, type 1
Reversed 1
HGVS NC_000001.10:g.155208421G>A
CLNSRC HGMD
CLNACC RCV000055774.1, RCV000079345.3, RCV000179355.1,