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rs80356773

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356773(A;A)
Make rs80356773(A;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position155204793
GeneGBA
is asnp
is mentioned by
dbSNPrs80356773
ebirs80356773
HLIrs80356773
Exacrs80356773
Varsomers80356773
Maprs80356773
PheGenIrs80356773
hapmaprs80356773
1000 genomesrs80356773
hgdprs80356773
ensemblrs80356773
gopubmedrs80356773
geneviewrs80356773
scholarrs80356773
googlers80356773
pharmgkbrs80356773
gwascentralrs80356773
openSNPrs80356773
23andMers80356773
23andMe allrs80356773
SNP Nexus

SNPshotrs80356773
SNPdbers80356773
MSV3drs80356773
GWAS Ctlgrs80356773
Max Magnitude0
OMIM606463
Desc
Variant0022
Relatedalso
ClinVar
Risk rs80356773(A;A)
Alt rs80356773(A;A)
Reference rs80356773(G;G)
Significance Pathogenic
Disease Gaucher's disease Gaucher disease not provided
Variation info
Gene GBA
CLNDBN Gaucher's disease, type 1 Gaucher disease not provided
Reversed 1
HGVS NC_000001.11:g.155235002C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004553.3, RCV000020153.1, RCV000153309.2,


[PMID 8432537] Identification of six new Gaucher disease mutations.