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rs121907961

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121907961(C;T)
Make rs121907961(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position72351176
GeneHEXA
is asnp
is mentioned by
dbSNPrs121907961
ebirs121907961
HLIrs121907961
Exacrs121907961
Varsomers121907961
Maprs121907961
PheGenIrs121907961
hapmaprs121907961
1000 genomesrs121907961
hgdprs121907961
ensemblrs121907961
gopubmedrs121907961
geneviewrs121907961
scholarrs121907961
googlers121907961
pharmgkbrs121907961
gwascentralrs121907961
openSNPrs121907961
23andMers121907961
23andMe allrs121907961
SNP Nexus

SNPshotrs121907961
SNPdbers121907961
MSV3drs121907961
GWAS Ctlgrs121907961
Max Magnitude0
OMIM606869
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121907961(T;T)
Alt rs121907961(T;T)
Reference rs121907961(C;C)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72643517G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004114.2,