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rs121907974

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121907974(C;C)
Make rs121907974(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position72351173
GeneHEXA
is asnp
is mentioned by
dbSNPrs121907974
ebirs121907974
HLIrs121907974
Exacrs121907974
Varsomers121907974
Maprs121907974
PheGenIrs121907974
hapmaprs121907974
1000 genomesrs121907974
hgdprs121907974
ensemblrs121907974
gopubmedrs121907974
geneviewrs121907974
scholarrs121907974
googlers121907974
pharmgkbrs121907974
gwascentralrs121907974
openSNPrs121907974
23andMers121907974
23andMe allrs121907974
SNP Nexus

SNPshotrs121907974
SNPdbers121907974
MSV3drs121907974
GWAS Ctlgrs121907974
Max Magnitude0
OMIM606869
Desc
Variant0043
Relatedalso
ClinVar
Risk rs121907974(C;C)
Alt rs121907974(C;C)
Reference rs121907974(T;T)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72643514A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004135.2,