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rs1057516654

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516654(-;G)
Make rs1057516654(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17461609
GeneABCC8
is asnp
is mentioned by
dbSNPrs1057516654
dbSNP (old)rs1057516654
ClinGenrs1057516654
ebirs1057516654
HLIrs1057516654
Exacrs1057516654
Gnomadrs1057516654
Varsomers1057516654
LitVarrs1057516654
Maprs1057516654
PheGenIrs1057516654
Biobankrs1057516654
1000 genomesrs1057516654
hgdprs1057516654
ensemblrs1057516654
gopubmedrs1057516654
geneviewrs1057516654
scholarrs1057516654
googlers1057516654
pharmgkbrs1057516654
gwascentralrs1057516654
openSNPrs1057516654
23andMers1057516654
23andMe allrs1057516654
SNPshotrs1057516654
SNPdbers1057516654
MSV3drs1057516654
GWAS Ctlgrs1057516654
Max Magnitude0
ClinVar
Risk rs1057516654(G;G)
Alt rs1057516654(G;G)
Reference Rs1057516654(-;-)
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.17483157dupC
CLNSRC
CLNACC RCV000411743.1,