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rs1057517174

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517174(-;-)
Make rs1057517174(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position72353714
GeneHEXA
is asnp
is mentioned by
dbSNPrs1057517174
dbSNP (old)rs1057517174
ClinGenrs1057517174
ebirs1057517174
HLIrs1057517174
Exacrs1057517174
Gnomadrs1057517174
Varsomers1057517174
LitVarrs1057517174
Maprs1057517174
PheGenIrs1057517174
Biobankrs1057517174
1000 genomesrs1057517174
hgdprs1057517174
ensemblrs1057517174
gopubmedrs1057517174
geneviewrs1057517174
scholarrs1057517174
googlers1057517174
pharmgkbrs1057517174
gwascentralrs1057517174
openSNPrs1057517174
23andMers1057517174
23andMe allrs1057517174
SNPshotrs1057517174
SNPdbers1057517174
MSV3drs1057517174
GWAS Ctlgrs1057517174
Max Magnitude0
ClinVar
Risk rs1057517174(-;-)
Alt rs1057517174(-;-)
Reference Rs1057517174(G;G)
Significance Probable-Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72646055delC
CLNSRC
CLNACC RCV000411678.1,