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

rs121907962

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121907962(C;T)
Make rs121907962(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position72355562
GeneHEXA
is asnp
is mentioned by
dbSNPrs121907962
ebirs121907962
HLIrs121907962
Exacrs121907962
Varsomers121907962
Maprs121907962
PheGenIrs121907962
hapmaprs121907962
1000 genomesrs121907962
hgdprs121907962
ensemblrs121907962
gopubmedrs121907962
geneviewrs121907962
scholarrs121907962
googlers121907962
pharmgkbrs121907962
gwascentralrs121907962
openSNPrs121907962
23andMers121907962
23andMe allrs121907962
SNP Nexus

SNPshotrs121907962
SNPdbers121907962
MSV3drs121907962
GWAS Ctlgrs121907962
Max Magnitude0
OMIM606869
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121907962(T;T)
Alt rs121907962(T;T)
Reference rs121907962(C;C)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72647903G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004110.2,