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rs121907982

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121907982(A;C)
Make rs121907982(C;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position74718921
GeneHEXB
is asnp
is mentioned by
dbSNPrs121907982
ebirs121907982
HLIrs121907982
Exacrs121907982
Varsomers121907982
Maprs121907982
PheGenIrs121907982
hapmaprs121907982
1000 genomesrs121907982
hgdprs121907982
ensemblrs121907982
gopubmedrs121907982
geneviewrs121907982
scholarrs121907982
googlers121907982
pharmgkbrs121907982
gwascentralrs121907982
openSNPrs121907982
23andMers121907982
23andMe allrs121907982
SNP Nexus

SNPshotrs121907982
SNPdbers121907982
MSV3drs121907982
GWAS Ctlgrs121907982
GMAF0.0004591
Max Magnitude0
OMIM606873
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121907982(C;C)
Alt rs121907982(C;C)
Reference Rs121907982(A;A)
Significance Pathogenic
Disease Sandhoff disease
Variation info
Gene HEXB
CLNDBN Sandhoff disease, juvenile type
Reversed 0
HGVS NC_000005.9:g.74014746A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004081.4,