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

rs28942073

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28942073(C;T)
Make rs28942073(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position74718804
GeneHEXB
is asnp
is mentioned by
dbSNPrs28942073
ebirs28942073
HLIrs28942073
Exacrs28942073
Varsomers28942073
Maprs28942073
PheGenIrs28942073
hapmaprs28942073
1000 genomesrs28942073
hgdprs28942073
ensemblrs28942073
gopubmedrs28942073
geneviewrs28942073
scholarrs28942073
googlers28942073
pharmgkbrs28942073
gwascentralrs28942073
openSNPrs28942073
23andMers28942073
23andMe allrs28942073
SNP Nexus

SNPshotrs28942073
SNPdbers28942073
MSV3drs28942073
GWAS Ctlgrs28942073
GMAF0.001377
Max Magnitude0
OMIM606873
DescSANDHOFF DISEASE, JUVENILE TYPE
Variant0007
Relatedalso
OMIM606873
Desc
Variant0010
Relatedalso
ClinVar
Risk rs28942073(T;T)
Alt rs28942073(T;T)
Reference rs28942073(C;C)
Significance Pathogenic
Disease Sandhoff disease Sandhoff disease not provided Sandhoff disease
Variation info
Gene HEXB
CLNDBN Sandhoff disease, juvenile type Sandhoff disease, adult type not provided Sandhoff disease
Reversed 0
HGVS NC_000005.9:g.74014629C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004082.4, RCV000004084.3, RCV000079058.3, RCV000174009.1,