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rs1057519467

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.p7 38.3/150
Chromosome15
Position72345540
GeneHEXA
is asnp
is mentioned by
dbSNPrs1057519467
dbSNP (old)rs1057519467
ClinGenrs1057519467
ebirs1057519467
HLIrs1057519467
Exacrs1057519467
Gnomadrs1057519467
Varsomers1057519467
LitVarrs1057519467
Maprs1057519467
PheGenIrs1057519467
Biobankrs1057519467
1000 genomesrs1057519467
hgdprs1057519467
ensemblrs1057519467
gopubmedrs1057519467
geneviewrs1057519467
scholarrs1057519467
googlers1057519467
pharmgkbrs1057519467
gwascentralrs1057519467
openSNPrs1057519467
23andMers1057519467
23andMe allrs1057519467
SNPshotrs1057519467
SNPdbers1057519467
MSV3drs1057519467
GWAS Ctlgrs1057519467
Max Magnitude8.8
ClinVar
Risk Rs1057519467(A;A)
Alt Rs1057519467(A;A)
Reference Rs1057519467(G;G)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72637881C>T
CLNSRC
CLNACC RCV000416475.1,