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rs878853317

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878853317(A;A)
Make rs878853317(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
GeneGBA
is asnp
is mentioned by
dbSNPrs878853317
ebirs878853317
HLIrs878853317
Exacrs878853317
Varsomers878853317
Maprs878853317
PheGenIrs878853317
hapmaprs878853317
1000 genomesrs878853317
hgdprs878853317
ensemblrs878853317
gopubmedrs878853317
geneviewrs878853317
scholarrs878853317
googlers878853317
pharmgkbrs878853317
gwascentralrs878853317
openSNPrs878853317
23andMers878853317
23andMe allrs878853317
SNP Nexus

SNPshotrs878853317
SNPdbers878853317
MSV3drs878853317
GWAS Ctlgrs878853317
Max Magnitude0
ClinVar
Risk rs878853317(A;A)
Alt rs878853317(A;A)
Reference rs878853317(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.155205032C>T
CLNSRC
CLNACC RCV000225643.1,