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rs1057519464

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
Position72347711
GeneHEXA
is asnp
is mentioned by
dbSNPrs1057519464
dbSNP (old)rs1057519464
ClinGenrs1057519464
ebirs1057519464
HLIrs1057519464
Exacrs1057519464
Gnomadrs1057519464
Varsomers1057519464
Maprs1057519464
PheGenIrs1057519464
Biobankrs1057519464
1000 genomesrs1057519464
hgdprs1057519464
ensemblrs1057519464
gopubmedrs1057519464
geneviewrs1057519464
scholarrs1057519464
googlers1057519464
pharmgkbrs1057519464
gwascentralrs1057519464
openSNPrs1057519464
23andMers1057519464
23andMe allrs1057519464
SNPshotrs1057519464
SNPdbers1057519464
MSV3drs1057519464
GWAS Ctlgrs1057519464
Max Magnitude8.8
ClinVar
Risk Rs1057519464(C;C)
Alt Rs1057519464(C;C)
Reference Rs1057519464(A;A)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72640052T>G
CLNSRC
CLNACC RCV000416466.1,