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rs121907972

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121907972(C;T)
Make rs121907972(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position72353130
GeneHEXA
is asnp
is mentioned by
dbSNPrs121907972
ebirs121907972
HLIrs121907972
Exacrs121907972
Varsomers121907972
Maprs121907972
PheGenIrs121907972
hapmaprs121907972
1000 genomesrs121907972
hgdprs121907972
ensemblrs121907972
gopubmedrs121907972
geneviewrs121907972
scholarrs121907972
googlers121907972
pharmgkbrs121907972
gwascentralrs121907972
openSNPrs121907972
23andMers121907972
23andMe allrs121907972
SNP Nexus

SNPshotrs121907972
SNPdbers121907972
MSV3drs121907972
GWAS Ctlgrs121907972
Max Magnitude0
OMIM606869
Desc
Variant0039
Relatedalso
ClinVar
Risk rs121907972(T;T)
Alt rs121907972(T;T)
Reference Rs121907972(C;C)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72645471G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004131.3,