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rs80356759

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356759(A;A)
Make rs80356759(A;G)
ReferenceGRCh37.p5 37.3/137
Chromosome1
Position155210876
GeneGBA
is asnp
is mentioned by
dbSNPrs80356759
ebirs80356759
HLIrs80356759
Exacrs80356759
Varsomers80356759
Maprs80356759
PheGenIrs80356759
hapmaprs80356759
1000 genomesrs80356759
hgdprs80356759
ensemblrs80356759
gopubmedrs80356759
geneviewrs80356759
scholarrs80356759
googlers80356759
pharmgkbrs80356759
gwascentralrs80356759
openSNPrs80356759
23andMers80356759
23andMe allrs80356759
SNP Nexus

SNPshotrs80356759
SNPdbers80356759
MSV3drs80356759
GWAS Ctlgrs80356759
Max Magnitude0
ClinVar
Risk rs80356759(A;A)
Alt rs80356759(A;A)
Reference rs80356759(G;G)
Significance Pathogenic
Disease Gaucher's disease Acute neuronopathic Gaucher's disease Gaucher disease
Variation info
Gene GBA
CLNDBN Gaucher's disease, type 1 Acute neuronopathic Gaucher's disease Gaucher disease
Reversed 1
HGVS NC_000001.10:g.155210876C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004545.4, RCV000004546.4, RCV000032094.1,


[PMID 2349952OA-icon.png] Complex alleles of the acid beta-glucosidase gene in Gaucher disease.


[PMID 2508065OA-icon.png] Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene.