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rs121907968

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121907968(C;C)
Make rs121907968(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position72345519
GeneHEXA
is asnp
is mentioned by
dbSNPrs121907968
ebirs121907968
HLIrs121907968
Exacrs121907968
Varsomers121907968
Maprs121907968
PheGenIrs121907968
hapmaprs121907968
1000 genomesrs121907968
hgdprs121907968
ensemblrs121907968
gopubmedrs121907968
geneviewrs121907968
scholarrs121907968
googlers121907968
pharmgkbrs121907968
gwascentralrs121907968
openSNPrs121907968
23andMers121907968
23andMe allrs121907968
SNP Nexus

SNPshotrs121907968
SNPdbers121907968
MSV3drs121907968
GWAS Ctlgrs121907968
Max Magnitude0
OMIM606869
Desc
Variant0030
Relatedalso
ClinVar
Risk rs121907968(C;C)
Alt rs121907968(C;C)
Reference rs121907968(T;T)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72637860A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004123.2,