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rs1057516585

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516585(A;A)
Make rs1057516585(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17406942
GeneABCC8
is asnp
is mentioned by
dbSNPrs1057516585
dbSNP (old)rs1057516585
ClinGenrs1057516585
ebirs1057516585
HLIrs1057516585
Exacrs1057516585
Gnomadrs1057516585
Varsomers1057516585
Maprs1057516585
PheGenIrs1057516585
Biobankrs1057516585
1000 genomesrs1057516585
hgdprs1057516585
ensemblrs1057516585
gopubmedrs1057516585
geneviewrs1057516585
scholarrs1057516585
googlers1057516585
pharmgkbrs1057516585
gwascentralrs1057516585
openSNPrs1057516585
23andMers1057516585
23andMe allrs1057516585
SNPshotrs1057516585
SNPdbers1057516585
MSV3drs1057516585
GWAS Ctlgrs1057516585
Max Magnitude0
ClinVar
Risk rs1057516585(A;A)
Alt rs1057516585(A;A)
Reference Rs1057516585(G;G)
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.17428489C>T
CLNSRC
CLNACC RCV000411424.1,