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rs1057519459

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 3 Carrier of a Tay-Sachs mutation
(C;C) 8.8 Tay-Sachs disease (predicted)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position72353687
GeneHEXA
is asnp
is mentioned by
dbSNPrs1057519459
dbSNP (old)rs1057519459
ClinGenrs1057519459
ebirs1057519459
HLIrs1057519459
Exacrs1057519459
Gnomadrs1057519459
Varsomers1057519459
Maprs1057519459
PheGenIrs1057519459
Biobankrs1057519459
1000 genomesrs1057519459
hgdprs1057519459
ensemblrs1057519459
gopubmedrs1057519459
geneviewrs1057519459
scholarrs1057519459
googlers1057519459
pharmgkbrs1057519459
gwascentralrs1057519459
openSNPrs1057519459
23andMers1057519459
23andMe allrs1057519459
SNPshotrs1057519459
SNPdbers1057519459
MSV3drs1057519459
GWAS Ctlgrs1057519459
Max Magnitude8.8
ClinVar
Risk Rs1057519459(C;C)
Alt Rs1057519459(C;C)
Reference Rs1057519459(A;A)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72646028T>G
CLNSRC
CLNACC RCV000416426.1,