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rs121907953

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121907953(C;T)
Make rs121907953(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position72353106
GeneHEXA
is asnp
is mentioned by
dbSNPrs121907953
ebirs121907953
HLIrs121907953
Exacrs121907953
Varsomers121907953
Maprs121907953
PheGenIrs121907953
hapmaprs121907953
1000 genomesrs121907953
hgdprs121907953
ensemblrs121907953
gopubmedrs121907953
geneviewrs121907953
scholarrs121907953
googlers121907953
pharmgkbrs121907953
gwascentralrs121907953
openSNPrs121907953
23andMers121907953
23andMe allrs121907953
SNP Nexus

SNPshotrs121907953
SNPdbers121907953
MSV3drs121907953
GWAS Ctlgrs121907953
Max Magnitude0
OMIM606869
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121907953(T;T)
Alt rs121907953(T;T)
Reference rs121907953(C;C)
Significance Pathogenic
Disease Tay-Sachs disease HEXA
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease, B1 variant HEXA, Czechoslovakian allele
Reversed 1
HGVS NC_000015.9:g.72645447G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004102.2, RCV000004103.2,