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rs80356765

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356765(A;A)
Make rs80356765(A;G)
ReferenceGRCh37.p5 37.3/137
Chromosome1
Position155206131
GeneGBA
is asnp
is mentioned by
dbSNPrs80356765
ebirs80356765
HLIrs80356765
Exacrs80356765
Varsomers80356765
Maprs80356765
PheGenIrs80356765
hapmaprs80356765
1000 genomesrs80356765
hgdprs80356765
ensemblrs80356765
gopubmedrs80356765
geneviewrs80356765
scholarrs80356765
googlers80356765
pharmgkbrs80356765
gwascentralrs80356765
openSNPrs80356765
23andMers80356765
23andMe allrs80356765
SNP Nexus

SNPshotrs80356765
SNPdbers80356765
MSV3drs80356765
GWAS Ctlgrs80356765
Max Magnitude0
ClinVar
Risk rs80356765(A;A)
Alt rs80356765(A;A)
Reference rs80356765(G;G)
Significance Untested
Disease Gaucher's disease Subacute neuronopathic Gaucher's disease
Variation info
Gene GBA
CLNDBN Gaucher's disease, type 1 Subacute neuronopathic Gaucher's disease
Reversed 1
HGVS NC_000001.10:g.155206131C>T
CLNSRC OMIM Allelic Variant
CLNACC SCV000024745.1, SCV000024745.1, SCV000024745.1, SCV000024746.1, SCV000024746.1, SCV000024746.1,


[PMID 10466427] Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin.