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rs1057516617

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516617(C;T)
Make rs1057516617(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position72346707
GeneHEXA
is asnp
is mentioned by
dbSNPrs1057516617
dbSNP (old)rs1057516617
ClinGenrs1057516617
ebirs1057516617
HLIrs1057516617
Exacrs1057516617
Gnomadrs1057516617
Varsomers1057516617
Maprs1057516617
PheGenIrs1057516617
Biobankrs1057516617
1000 genomesrs1057516617
hgdprs1057516617
ensemblrs1057516617
gopubmedrs1057516617
geneviewrs1057516617
scholarrs1057516617
googlers1057516617
pharmgkbrs1057516617
gwascentralrs1057516617
openSNPrs1057516617
23andMers1057516617
23andMe allrs1057516617
SNPshotrs1057516617
SNPdbers1057516617
MSV3drs1057516617
GWAS Ctlgrs1057516617
Max Magnitude0
ClinVar
Risk rs1057516617(T;T)
Alt rs1057516617(T;T)
Reference Rs1057516617(C;C)
Significance Probable-Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72639048G>A
CLNSRC
CLNACC RCV000411081.1,