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rs1057519462

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.p7 38.3/150
Chromosome15
Position72350535
GeneHEXA
is asnp
is mentioned by
dbSNPrs1057519462
dbSNP (old)rs1057519462
ClinGenrs1057519462
ebirs1057519462
HLIrs1057519462
Exacrs1057519462
Gnomadrs1057519462
Varsomers1057519462
LitVarrs1057519462
Maprs1057519462
PheGenIrs1057519462
Biobankrs1057519462
1000 genomesrs1057519462
hgdprs1057519462
ensemblrs1057519462
gopubmedrs1057519462
geneviewrs1057519462
scholarrs1057519462
googlers1057519462
pharmgkbrs1057519462
gwascentralrs1057519462
openSNPrs1057519462
23andMers1057519462
23andMe allrs1057519462
SNPshotrs1057519462
SNPdbers1057519462
MSV3drs1057519462
GWAS Ctlgrs1057519462
Max Magnitude8.8
ClinVar
Risk Rs1057519462(T;T)
Alt Rs1057519462(T;T)
Reference Rs1057519462(C;C)
Significance Probable-Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72642876G>A
CLNSRC
CLNACC RCV000416422.1,