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rs80356772

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356772(A;A)
Make rs80356772(A;G)
ReferenceGRCh37.p5 37.3/137
Chromosome1
Position155204986
GeneGBA
is asnp
is mentioned by
dbSNPrs80356772
ebirs80356772
HLIrs80356772
Exacrs80356772
Varsomers80356772
Maprs80356772
PheGenIrs80356772
hapmaprs80356772
1000 genomesrs80356772
hgdprs80356772
ensemblrs80356772
gopubmedrs80356772
geneviewrs80356772
scholarrs80356772
googlers80356772
pharmgkbrs80356772
gwascentralrs80356772
openSNPrs80356772
23andMers80356772
23andMe allrs80356772
SNP Nexus

SNPshotrs80356772
SNPdbers80356772
MSV3drs80356772
GWAS Ctlgrs80356772
Max Magnitude0
ClinVar
Risk rs80356772(A;A)
Alt rs80356772(A;A)
Reference rs80356772(G;G)
Significance Pathogenic
Disease Gaucher disease
Variation info
Gene GBA
CLNDBN Gaucher disease
Reversed 1
HGVS NC_000001.10:g.155204986C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020152.1,


[PMID 17427031] Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain.