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rs121907964

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 8.8 Tay-Sachs disease (predicted)
(A;G) 3 Carrier of a Tay-Sachs mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome15
Position72375895
GeneHEXA, HEXA-AS1
is asnp
is mentioned by
dbSNPrs121907964
dbSNP (classic)rs121907964
ClinGenrs121907964
ebirs121907964
HLIrs121907964
Exacrs121907964
Gnomadrs121907964
Varsomers121907964
LitVarrs121907964
Maprs121907964
PheGenIrs121907964
Biobankrs121907964
1000 genomesrs121907964
hgdprs121907964
ensemblrs121907964
geneviewrs121907964
scholarrs121907964
googlers121907964
pharmgkbrs121907964
gwascentralrs121907964
openSNPrs121907964
23andMers121907964
SNPshotrs121907964
SNPdbers121907964
MSV3drs121907964
GWAS Ctlgrs121907964
Max Magnitude8.8

23andMe name: i5004832

OMIM606869
Desc
Variant0023
Relatedalso
ClinVar
Risk Rs121907964(A;A)
Alt Rs121907964(A;A)
Reference Rs121907964(G;G)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA-AS1 HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72668236C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004117.2,