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rs11556045

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 0 benign polymorphism
(G;G) 0 benign polymorphism
ReferenceGRCh38 38.1/141
Chromosome5
Position74689390
GeneHEXB
is asnp
is mentioned by
dbSNPrs11556045
dbSNP (old)rs11556045
ClinGenrs11556045
ebirs11556045
HLIrs11556045
Exacrs11556045
Gnomadrs11556045
Varsomers11556045
LitVarrs11556045
Maprs11556045
PheGenIrs11556045
Biobankrs11556045
1000 genomesrs11556045
hgdprs11556045
ensemblrs11556045
gopubmedrs11556045
geneviewrs11556045
scholarrs11556045
googlers11556045
pharmgkbrs11556045
gwascentralrs11556045
openSNPrs11556045
23andMers11556045
23andMe allrs11556045
SNPshotrs11556045
SNPdbers11556045
MSV3drs11556045
GWAS Ctlgrs11556045
GMAF0.208
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM606873
DescHEXB POLYMORPHISM
Variant0008
Relatedalso



ClinVar
Risk Rs11556045(G;G)
Alt Rs11556045(G;G)
Reference Rs11556045(A;A)
Significance Probable-non-pathogenic
Disease HEXB POLYMORPHISM not specified Sandhoff disease
Variation info
Gene HEXB
CLNDBN HEXB POLYMORPHISM not specified Sandhoff disease
Reversed 0
HGVS NC_000005.9:g.73985215A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004078.2, RCV000079063.5, RCV000336190.1,



[PMID 18704161OA-icon.png] Genetic variation in an individual human exome.