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rs1057519460

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 3 Carrier of a Tay-Sachs mutation
(C;C) 8.8 Tay-Sachs disease (predicted)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position72353114
GeneHEXA
is asnp
is mentioned by
dbSNPrs1057519460
dbSNP (old)rs1057519460
ClinGenrs1057519460
ebirs1057519460
HLIrs1057519460
Exacrs1057519460
Gnomadrs1057519460
Varsomers1057519460
Maprs1057519460
PheGenIrs1057519460
Biobankrs1057519460
1000 genomesrs1057519460
hgdprs1057519460
ensemblrs1057519460
gopubmedrs1057519460
geneviewrs1057519460
scholarrs1057519460
googlers1057519460
pharmgkbrs1057519460
gwascentralrs1057519460
openSNPrs1057519460
23andMers1057519460
23andMe allrs1057519460
SNPshotrs1057519460
SNPdbers1057519460
MSV3drs1057519460
GWAS Ctlgrs1057519460
Max Magnitude8.8
ClinVar
Risk Rs1057519460(C;C)
Alt Rs1057519460(C;C)
Reference Rs1057519460(A;A)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72645455T>G
CLNSRC
CLNACC RCV000416473.1,