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rs121907986

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121907986(C;T)
Make rs121907986(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position74713584
GeneHEXB
is asnp
is mentioned by
dbSNPrs121907986
ebirs121907986
HLIrs121907986
Exacrs121907986
Varsomers121907986
Maprs121907986
PheGenIrs121907986
hapmaprs121907986
1000 genomesrs121907986
hgdprs121907986
ensemblrs121907986
gopubmedrs121907986
geneviewrs121907986
scholarrs121907986
googlers121907986
pharmgkbrs121907986
gwascentralrs121907986
openSNPrs121907986
23andMers121907986
23andMe allrs121907986
SNP Nexus

SNPshotrs121907986
SNPdbers121907986
MSV3drs121907986
GWAS Ctlgrs121907986
Max Magnitude0
OMIM606873
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121907986(T;T)
Alt rs121907986(T;T)
Reference rs121907986(C;C)
Significance Pathogenic
Disease Sandhoff disease Sandhoff disease
Variation info
Gene HEXB
CLNDBN Sandhoff disease, infantile Sandhoff disease
Reversed 0
HGVS NC_000005.9:g.74009409C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004091.2, RCV000184012.1,