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rs878853320

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs878853320(G;G)
Make rs878853320(G;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position155235303
GeneGBA
is asnp
is mentioned by
dbSNPrs878853320
dbSNP (classic)rs878853320
ClinGenrs878853320
ebirs878853320
HLIrs878853320
Exacrs878853320
Gnomadrs878853320
Varsomers878853320
LitVarrs878853320
Maprs878853320
PheGenIrs878853320
Biobankrs878853320
1000 genomesrs878853320
hgdprs878853320
ensemblrs878853320
geneviewrs878853320
scholarrs878853320
googlers878853320
pharmgkbrs878853320
gwascentralrs878853320
openSNPrs878853320
23andMers878853320
SNPshotrs878853320
SNPdbers878853320
MSV3drs878853320
GWAS Ctlgrs878853320
Max Magnitude0
ClinVar
Risk rs878853320(G;G)
Alt rs878853320(G;G)
Reference Rs878853320(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.155205094A>C
CLNSRC Institute of Human Genetics
CLNACC RCV000225638.1,