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rs121907977

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121907977(G;G)
Make rs121907977(G;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position72349163
GeneHEXA
is asnp
is mentioned by
dbSNPrs121907977
ebirs121907977
HLIrs121907977
Exacrs121907977
Varsomers121907977
Maprs121907977
PheGenIrs121907977
hapmaprs121907977
1000 genomesrs121907977
hgdprs121907977
ensemblrs121907977
gopubmedrs121907977
geneviewrs121907977
scholarrs121907977
googlers121907977
pharmgkbrs121907977
gwascentralrs121907977
openSNPrs121907977
23andMers121907977
23andMe allrs121907977
SNP Nexus

SNPshotrs121907977
SNPdbers121907977
MSV3drs121907977
GWAS Ctlgrs121907977
Max Magnitude0
OMIM606869
Desc
Variant0047
Relatedalso
ClinVar
Risk rs121907977(G;G)
Alt rs121907977(G;G)
Reference rs121907977(T;T)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72641504A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004139.2,