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rs878853319

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878853319(G;T)
Make rs878853319(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
GeneGBA
is asnp
is mentioned by
dbSNPrs878853319
ebirs878853319
HLIrs878853319
Exacrs878853319
Varsomers878853319
Maprs878853319
PheGenIrs878853319
hapmaprs878853319
1000 genomesrs878853319
hgdprs878853319
ensemblrs878853319
gopubmedrs878853319
geneviewrs878853319
scholarrs878853319
googlers878853319
pharmgkbrs878853319
gwascentralrs878853319
openSNPrs878853319
23andMers878853319
23andMe allrs878853319
SNP Nexus

SNPshotrs878853319
SNPdbers878853319
MSV3drs878853319
GWAS Ctlgrs878853319
Max Magnitude0
ClinVar
Risk rs878853319(T;T)
Alt rs878853319(T;T)
Reference rs878853319(G;G)
Significance Probable-Pathogenic
Disease Gaucher's disease
Variation info
Gene GBA
CLNDBN Gaucher's disease, type 1
Reversed 1
HGVS NC_000001.10:g.155206063C>A
CLNSRC
CLNACC RCV000225494.1,