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

rs121907985

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121907985(C;T)
Make rs121907985(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position74720644
GeneHEXB
is asnp
is mentioned by
dbSNPrs121907985
ebirs121907985
HLIrs121907985
Exacrs121907985
Varsomers121907985
Maprs121907985
PheGenIrs121907985
hapmaprs121907985
1000 genomesrs121907985
hgdprs121907985
ensemblrs121907985
gopubmedrs121907985
geneviewrs121907985
scholarrs121907985
googlers121907985
pharmgkbrs121907985
gwascentralrs121907985
openSNPrs121907985
23andMers121907985
23andMe allrs121907985
SNP Nexus

SNPshotrs121907985
SNPdbers121907985
MSV3drs121907985
GWAS Ctlgrs121907985
Max Magnitude0
OMIM606873
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121907985(T;T)
Alt rs121907985(T;T)
Reference rs121907985(C;C)
Significance Pathogenic
Disease Sandhoff disease
Variation info
Gene HEXB
CLNDBN Sandhoff disease, chronic
Reversed 0
HGVS NC_000005.9:g.74016469C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004088.2,