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rs1057516860

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516860(-;-)
Make rs1057516860(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17428609
GeneABCC8
is asnp
is mentioned by
dbSNPrs1057516860
dbSNP (classic)rs1057516860
ClinGenrs1057516860
ebirs1057516860
HLIrs1057516860
Exacrs1057516860
Gnomadrs1057516860
Varsomers1057516860
LitVarrs1057516860
Maprs1057516860
PheGenIrs1057516860
Biobankrs1057516860
1000 genomesrs1057516860
hgdprs1057516860
ensemblrs1057516860
geneviewrs1057516860
scholarrs1057516860
googlers1057516860
pharmgkbrs1057516860
gwascentralrs1057516860
openSNPrs1057516860
23andMers1057516860
23andMe allrs1057516860
SNPshotrs1057516860
SNPdbers1057516860
MSV3drs1057516860
GWAS Ctlgrs1057516860
Max Magnitude0
ClinVar
Risk rs1057516860(-;-)
Alt rs1057516860(-;-)
Reference Rs1057516860(C;C)
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.17450156delG
CLNSRC
CLNACC RCV000409962.1,