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rs137852676

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852676(A;A)
Make rs137852676(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17395852
GeneABCC8
is asnp
is mentioned by
dbSNPrs137852676
ebirs137852676
HLIrs137852676
Exacrs137852676
Varsomers137852676
Maprs137852676
PheGenIrs137852676
hapmaprs137852676
1000 genomesrs137852676
hgdprs137852676
ensemblrs137852676
gopubmedrs137852676
geneviewrs137852676
scholarrs137852676
googlers137852676
pharmgkbrs137852676
gwascentralrs137852676
openSNPrs137852676
23andMers137852676
23andMe allrs137852676
SNP Nexus

SNPshotrs137852676
SNPdbers137852676
MSV3drs137852676
GWAS Ctlgrs137852676
Max Magnitude0
OMIM600509
Desc
Variant0025
Relatedalso
ClinVar
Risk rs137852676(A,T;A,T)
Alt rs137852676(A,T;A,T)
Reference rs137852676(G;G)
Significance Probable-Pathogenic
Disease Familial hyperinsulinism Persistent hyperinsulinemic hypoglycemia of infancy
Variation info
Gene ABCC8
CLNDBN Familial hyperinsulinism Persistent hyperinsulinemic hypoglycemia of infancy
Reversed 1
HGVS NC_000011.9:g.17417399C>T
CLNSRC Counsyl
CLNACC RCV000029263.1, RCV000169150.1,


[PMID 16357] [Pharmacokinetics of glaphenine in subjects with normal renal function and in patients with chronic renal insufficiency].

[PMID 14715863] Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation.

[PMID 17378627] Genotype-phenotype associations in patients with severe hyperinsulinism of infancy.

[PMID 17668386OA-icon.png] Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.

[PMID 18025408] Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations.

[PMID 18436707OA-icon.png] Neonatal diabetes mellitus.