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rs121907963

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121907963(C;T)
Make rs121907963(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position72346680
GeneHEXA
is asnp
is mentioned by
dbSNPrs121907963
ebirs121907963
HLIrs121907963
Exacrs121907963
Varsomers121907963
Maprs121907963
PheGenIrs121907963
hapmaprs121907963
1000 genomesrs121907963
hgdprs121907963
ensemblrs121907963
gopubmedrs121907963
geneviewrs121907963
scholarrs121907963
googlers121907963
pharmgkbrs121907963
gwascentralrs121907963
openSNPrs121907963
23andMers121907963
23andMe allrs121907963
SNP Nexus

SNPshotrs121907963
SNPdbers121907963
MSV3drs121907963
GWAS Ctlgrs121907963
Max Magnitude0
OMIM606869
Desc
Variant0020
Relatedalso
ClinVar
Risk rs121907963(T;T)
Alt rs121907963(T;T)
Reference rs121907963(C;C)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72639021G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004111.2,