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rs121907965

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a Tay-Sachs mutation
(G;G) 8.8 Tay-Sachs disease (predicted)
ReferenceGRCh38 38.1/141
Chromosome15
Position72375972
GeneHEXA, HEXA-AS1
is asnp
is mentioned by
dbSNPrs121907965
dbSNP (old)rs121907965
ClinGenrs121907965
ebirs121907965
HLIrs121907965
Exacrs121907965
Gnomadrs121907965
Varsomers121907965
Maprs121907965
PheGenIrs121907965
Biobankrs121907965
1000 genomesrs121907965
hgdprs121907965
ensemblrs121907965
gopubmedrs121907965
geneviewrs121907965
scholarrs121907965
googlers121907965
pharmgkbrs121907965
gwascentralrs121907965
openSNPrs121907965
23andMers121907965
23andMe allrs121907965
SNPshotrs121907965
SNPdbers121907965
MSV3drs121907965
GWAS Ctlgrs121907965
Max Magnitude8.8

23andMe name: i5004834

OMIM606869
Desc
Variant0027
Relatedalso
ClinVar
Risk rs121907965(C;C) Rs121907965(G;G)
Alt rs121907965(C;C) Rs121907965(G;G)
Reference Rs121907965(A;A)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA-AS1 HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72668313T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004120.2,