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rs1057516589

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516589(C;C)
Make rs1057516589(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17416928
GeneABCC8
is asnp
is mentioned by
dbSNPrs1057516589
dbSNP (old)rs1057516589
ClinGenrs1057516589
ebirs1057516589
HLIrs1057516589
Exacrs1057516589
Gnomadrs1057516589
Varsomers1057516589
Maprs1057516589
PheGenIrs1057516589
Biobankrs1057516589
1000 genomesrs1057516589
hgdprs1057516589
ensemblrs1057516589
gopubmedrs1057516589
geneviewrs1057516589
scholarrs1057516589
googlers1057516589
pharmgkbrs1057516589
gwascentralrs1057516589
openSNPrs1057516589
23andMers1057516589
23andMe allrs1057516589
SNPshotrs1057516589
SNPdbers1057516589
MSV3drs1057516589
GWAS Ctlgrs1057516589
Max Magnitude0
ClinVar
Risk rs1057516589(C;C)
Alt rs1057516589(C;C)
Reference Rs1057516589(T;T)
Significance Probable-Pathogenic
Disease Persistent hyperinsulinemic hypoglycemia of infancy
Variation info
Gene ABCC8
CLNDBN Persistent hyperinsulinemic hypoglycemia of infancy
Reversed 1
HGVS NC_000011.9:g.17438475A>G
CLNSRC
CLNACC RCV000411947.1,