Have questions? Visit https://www.reddit.com/r/SNPedia

rs820878

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(T;T) 0 common in clinvar
Make rs820878(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position74685445
GeneHEXB
is asnp
is mentioned by
dbSNPrs820878
ebirs820878
HLIrs820878
Exacrs820878
Varsomers820878
Maprs820878
PheGenIrs820878
hapmaprs820878
1000 genomesrs820878
hgdprs820878
ensemblrs820878
gopubmedrs820878
geneviewrs820878
scholarrs820878
googlers820878
pharmgkbrs820878
gwascentralrs820878
openSNPrs820878
23andMers820878
23andMe allrs820878
SNP Nexus

SNPshotrs820878
SNPdbers820878
MSV3drs820878
GWAS Ctlgrs820878
GMAF0.02066
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM606873
DescSANDHOFF DISEASE, INFANTILE TYPE
Variant0012
Relatedalso


Venter snp
Source plos
Gene HEXB
allele C
frequency 0.974
sift TOLERATED
HuRef 1103654134457
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 rs820878(C;C)
Alt rs820878(C;C)
Reference rs820878(T;T)
Significance Pathogenic
Disease Sandhoff disease not specified
Variation info
Gene HEXB
CLNDBN Sandhoff disease, infantile type not specified
Reversed 0
HGVS NC_000005.9:g.73981270T\x3d; NC_000005.9:g.73981270T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004086.3, RCV000153357.2,



GET Evidence
HEXB-L62S
aa_change Leu62Ser
aa_change_short L62S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.968331
summary