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rs1057519461

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 8.8 Tay-Sachs disease (predicted)
(C;T) 3 Carrier of a Tay-Sachs mutation
(T;T) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position72351168
GeneHEXA
is asnp
is mentioned by
dbSNPrs1057519461
dbSNP (classic)rs1057519461
ClinGenrs1057519461
ebirs1057519461
HLIrs1057519461
Exacrs1057519461
Gnomadrs1057519461
Varsomers1057519461
LitVarrs1057519461
Maprs1057519461
PheGenIrs1057519461
Biobankrs1057519461
1000 genomesrs1057519461
hgdprs1057519461
ensemblrs1057519461
geneviewrs1057519461
scholarrs1057519461
googlers1057519461
pharmgkbrs1057519461
gwascentralrs1057519461
openSNPrs1057519461
23andMers1057519461
23andMe allrs1057519461
SNPshotrs1057519461
SNPdbers1057519461
MSV3drs1057519461
GWAS Ctlgrs1057519461
Max Magnitude8.8
ClinVar
Risk Rs1057519461(C;C)
Alt Rs1057519461(C;C)
Reference Rs1057519461(T;T)
Significance Probable-Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72643509A>G
CLNSRC
CLNACC RCV000416415.1,