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rs878853321

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878853321(C;C)
Make rs878853321(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
GeneGBA
is asnp
is mentioned by
dbSNPrs878853321
ebirs878853321
HLIrs878853321
Exacrs878853321
Varsomers878853321
Maprs878853321
PheGenIrs878853321
hapmaprs878853321
1000 genomesrs878853321
hgdprs878853321
ensemblrs878853321
gopubmedrs878853321
geneviewrs878853321
scholarrs878853321
googlers878853321
pharmgkbrs878853321
gwascentralrs878853321
openSNPrs878853321
23andMers878853321
23andMe allrs878853321
SNP Nexus

SNPshotrs878853321
SNPdbers878853321
MSV3drs878853321
GWAS Ctlgrs878853321
Max Magnitude0
ClinVar
Risk rs878853321(C;C)
Alt rs878853321(C;C)
Reference rs878853321(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.155207265C>G
CLNSRC Institute of Human Genetics
CLNACC RCV000225413.1,