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rs878853318

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs878853318(G;G)
Make rs878853318(G;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
GeneGBA
is asnp
is mentioned by
dbSNPrs878853318
ebirs878853318
HLIrs878853318
Exacrs878853318
Varsomers878853318
Maprs878853318
PheGenIrs878853318
hapmaprs878853318
1000 genomesrs878853318
hgdprs878853318
ensemblrs878853318
gopubmedrs878853318
geneviewrs878853318
scholarrs878853318
googlers878853318
pharmgkbrs878853318
gwascentralrs878853318
openSNPrs878853318
23andMers878853318
23andMe allrs878853318
SNP Nexus

SNPshotrs878853318
SNPdbers878853318
MSV3drs878853318
GWAS Ctlgrs878853318
Max Magnitude0
ClinVar
Risk rs878853318(G;G)
Alt rs878853318(G;G)
Reference rs878853318(T;T)
Significance Probable-Pathogenic
Disease Gaucher's disease
Variation info
Gene GBA
CLNDBN Gaucher's disease, type 1
Reversed 1
HGVS NC_000001.10:g.155209817A>C
CLNSRC
CLNACC RCV000225393.1,