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rs1057519466

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 8.8 Tay-Sachs disease (predicted)
(-;C) 3 Carrier of a Tay-Sachs mutation
(C;C) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position72346307
GeneHEXA
is asnp
is mentioned by
dbSNPrs1057519466
dbSNP (old)rs1057519466
ClinGenrs1057519466
ebirs1057519466
HLIrs1057519466
Exacrs1057519466
Gnomadrs1057519466
Varsomers1057519466
Maprs1057519466
PheGenIrs1057519466
Biobankrs1057519466
1000 genomesrs1057519466
hgdprs1057519466
ensemblrs1057519466
gopubmedrs1057519466
geneviewrs1057519466
scholarrs1057519466
googlers1057519466
pharmgkbrs1057519466
gwascentralrs1057519466
openSNPrs1057519466
23andMers1057519466
23andMe allrs1057519466
SNPshotrs1057519466
SNPdbers1057519466
MSV3drs1057519466
GWAS Ctlgrs1057519466
Max Magnitude8.8
ClinVar
Risk Rs1057519466(-;-)
Alt Rs1057519466(-;-)
Reference Rs1057519466(C;C)
Significance Probable-Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72638648delG
CLNSRC
CLNACC RCV000416471.1,