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rs1057516665

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516665(-;A)
Make rs1057516665(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17442746
GeneABCC8
is asnp
is mentioned by
dbSNPrs1057516665
dbSNP (old)rs1057516665
ClinGenrs1057516665
ebirs1057516665
HLIrs1057516665
Exacrs1057516665
Gnomadrs1057516665
Varsomers1057516665
Maprs1057516665
PheGenIrs1057516665
Biobankrs1057516665
1000 genomesrs1057516665
hgdprs1057516665
ensemblrs1057516665
gopubmedrs1057516665
geneviewrs1057516665
scholarrs1057516665
googlers1057516665
pharmgkbrs1057516665
gwascentralrs1057516665
openSNPrs1057516665
23andMers1057516665
23andMe allrs1057516665
SNPshotrs1057516665
SNPdbers1057516665
MSV3drs1057516665
GWAS Ctlgrs1057516665
Max Magnitude0
ClinVar
Risk rs1057516665(A;A)
Alt rs1057516665(A;A)
Reference Rs1057516665(-;-)
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.17464293_17464294insT
CLNSRC
CLNACC RCV000409385.1,