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rs1057519458

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 8.8 Tay-Sachs disease (predicted)
(-;T) 3 Carrier of a Tay-Sachs mutation
(T;T) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position72353724
GeneHEXA
is asnp
is mentioned by
dbSNPrs1057519458
dbSNP (old)rs1057519458
ClinGenrs1057519458
ebirs1057519458
HLIrs1057519458
Exacrs1057519458
Gnomadrs1057519458
Varsomers1057519458
Maprs1057519458
PheGenIrs1057519458
Biobankrs1057519458
1000 genomesrs1057519458
hgdprs1057519458
ensemblrs1057519458
gopubmedrs1057519458
geneviewrs1057519458
scholarrs1057519458
googlers1057519458
pharmgkbrs1057519458
gwascentralrs1057519458
openSNPrs1057519458
23andMers1057519458
23andMe allrs1057519458
SNPshotrs1057519458
SNPdbers1057519458
MSV3drs1057519458
GWAS Ctlgrs1057519458
Max Magnitude8.8
ClinVar
Risk Rs1057519458(-;-)
Alt Rs1057519458(-;-)
Reference Rs1057519458(T;T)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72646065delA
CLNSRC
CLNACC RCV000416465.1,