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rs121907957

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
Position72353129
GeneHEXA
is asnp
is mentioned by
dbSNPrs121907957
dbSNP (old)rs121907957
ClinGenrs121907957
ebirs121907957
HLIrs121907957
Exacrs121907957
Gnomadrs121907957
Varsomers121907957
Maprs121907957
PheGenIrs121907957
Biobankrs121907957
1000 genomesrs121907957
hgdprs121907957
ensemblrs121907957
gopubmedrs121907957
geneviewrs121907957
scholarrs121907957
googlers121907957
pharmgkbrs121907957
gwascentralrs121907957
openSNPrs121907957
23andMers121907957
23andMe allrs121907957
SNPshotrs121907957
SNPdbers121907957
MSV3drs121907957
GWAS Ctlgrs121907957
Max Magnitude8.8

23andMe name: i5000091

OMIM606869
Desc
Variant0011
Relatedalso
ClinVar
Risk Rs121907957(A;A)
Alt Rs121907957(A;A)
Reference Rs121907957(G;G)
Significance Pathogenic
Disease Tay-Sachs disease not provided
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease not provided
Reversed 1
HGVS NC_000015.9:g.72645470C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004106.2, RCV000336253.1,