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rs1057516850

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516850(-;-)
Make rs1057516850(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position72353173
GeneHEXA
is asnp
is mentioned by
dbSNPrs1057516850
dbSNP (old)rs1057516850
ClinGenrs1057516850
ebirs1057516850
HLIrs1057516850
Exacrs1057516850
Gnomadrs1057516850
Varsomers1057516850
LitVarrs1057516850
Maprs1057516850
PheGenIrs1057516850
Biobankrs1057516850
1000 genomesrs1057516850
hgdprs1057516850
ensemblrs1057516850
gopubmedrs1057516850
geneviewrs1057516850
scholarrs1057516850
googlers1057516850
pharmgkbrs1057516850
gwascentralrs1057516850
openSNPrs1057516850
23andMers1057516850
23andMe allrs1057516850
SNPshotrs1057516850
SNPdbers1057516850
MSV3drs1057516850
GWAS Ctlgrs1057516850
Max Magnitude0
ClinVar
Risk rs1057516850(-;-)
Alt rs1057516850(-;-)
Reference Rs1057516850(T;T)
Significance Probable-Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72645514delA
CLNSRC
CLNACC RCV000411940.1,