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Rs11556045

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Orientationplus
is asnp
is mentioned by
dbSNPrs11556045
PheGenIrs11556045
nextbiors11556045
hapmaprs11556045
1000 genomesrs11556045
hgdprs11556045
ensemblrs11556045
gopubmedrs11556045
geneviewrs11556045
scholarrs11556045
googlers11556045
pharmgkbrs11556045
gwascentralrs11556045
openSNPrs11556045
23andMers11556045
23andMe allrs11556045
SNP Nexus

SNPshotrs11556045
SNPdbers11556045
MSV3drs11556045
GeneHEXB
Chromosome5
Orientationplus
GMAF0.208
Position74689390
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G)
Make rs11556045(G;G)
? (A;A) (A;G) (G;G) 28
OMIM606873
DescHEXB POLYMORPHISM
Variant0008
Relatedalso


Venter snp
Source plos
Gene HEXB
allele G
frequency 0.212
sift TOLERATED
HuRef 1103654134455
Disease Association Defects in HEXB are the cause of Sandhoff disease (SD) (MIM:268800); also known as GM2-gangliosidosis type II. SD is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons. It is clinically indistinguishable from Tay-Sachs disease.



ClinVar
Risk rs11556045(G;G)
Alt rs11556045(G;G)
Reference rs11556045(A;A)
Significance 2
Disease HEXB POLYMORPHISM, AllHighlyPenetrant
ClinVar info
Gene HEXB
CLNDBN HEXB POLYMORPHISM, AllHighlyPenetrant
Reversed 0
CLNHGVS NC_000005.9:g.73985215A>G
CLNSRC Emory University, OMIM Allelic Variant
CLNACC RCV000004078.1, RCV000079063.1



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


GET Evidence
HEXB-K121R
aa_change Lys121Arg
aa_change_short K121R
impact benign
qualified_impact Insufficiently evaluated benign
overall_frequency 0.198736
summary