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rs121907966

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a Tay-Sachs mutation
(T;T) 8.8 Tay-Sachs disease (predicted)
ReferenceGRCh38 38.1/141
Chromosome15
Position72345477
GeneHEXA
is asnp
is mentioned by
dbSNPrs121907966
dbSNP (old)rs121907966
ClinGenrs121907966
ebirs121907966
HLIrs121907966
Exacrs121907966
Gnomadrs121907966
Varsomers121907966
Maprs121907966
PheGenIrs121907966
Biobankrs121907966
1000 genomesrs121907966
hgdprs121907966
ensemblrs121907966
gopubmedrs121907966
geneviewrs121907966
scholarrs121907966
googlers121907966
pharmgkbrs121907966
gwascentralrs121907966
openSNPrs121907966
23andMers121907966
23andMe allrs121907966
SNP Nexus

SNPshotrs121907966
SNPdbers121907966
MSV3drs121907966
GWAS Ctlgrs121907966
Max Magnitude8.8

23andMe name: i5004835

OMIM606869
Desc
Variant0028
Relatedalso
ClinVar
Risk Rs121907966(T;T)
Alt Rs121907966(T;T)
Reference Rs121907966(C;C)
Significance Other
Disease Gm2-gangliosidosis Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Gm2-gangliosidosis, adult-onset Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72637818G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004121.2, RCV000169417.1,