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rs1057519468

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 8.8 Tay-Sachs disease (predicted)
(A;G) 3 Carrier of a Tay-Sachs mutation
(G;G) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position72345518
GeneHEXA
is asnp
is mentioned by
dbSNPrs1057519468
dbSNP (old)rs1057519468
ClinGenrs1057519468
ebirs1057519468
HLIrs1057519468
Exacrs1057519468
Gnomadrs1057519468
Varsomers1057519468
Maprs1057519468
PheGenIrs1057519468
Biobankrs1057519468
1000 genomesrs1057519468
hgdprs1057519468
ensemblrs1057519468
gopubmedrs1057519468
geneviewrs1057519468
scholarrs1057519468
googlers1057519468
pharmgkbrs1057519468
gwascentralrs1057519468
openSNPrs1057519468
23andMers1057519468
23andMe allrs1057519468
SNPshotrs1057519468
SNPdbers1057519468
MSV3drs1057519468
GWAS Ctlgrs1057519468
Max Magnitude8.8
ClinVar
Risk Rs1057519468(A;A)
Alt Rs1057519468(A;A)
Reference Rs1057519468(G;G)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72637859C>T
CLNSRC
CLNACC RCV000416424.1,