Have questions? Visit https://www.reddit.com/r/SNPedia

rs80356624

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356624(A;A)
Make rs80356624(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17387490
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs80356624
ebirs80356624
HLIrs80356624
Exacrs80356624
Varsomers80356624
Maprs80356624
PheGenIrs80356624
hapmaprs80356624
1000 genomesrs80356624
hgdprs80356624
ensemblrs80356624
gopubmedrs80356624
geneviewrs80356624
scholarrs80356624
googlers80356624
pharmgkbrs80356624
gwascentralrs80356624
openSNPrs80356624
23andMers80356624
23andMe allrs80356624
SNP Nexus

SNPshotrs80356624
SNPdbers80356624
MSV3drs80356624
GWAS Ctlgrs80356624
Merged fromRs193929349
Max Magnitude0
OMIM600937
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80356624(A,T;A,T)
Alt rs80356624(A,T;A,T)
Reference rs80356624(G;G)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus Diabetes mellitus Transient neonatal diabetes mellitus 3 Neonatal insulin-dependent diabetes mellitus
Variation info
Gene KCNJ11
CLNDBN Permanent neonatal diabetes mellitus Diabetes mellitus, permanent neonatal, with neurologic features Transient neonatal diabetes mellitus 3 Neonatal insulin-dependent diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17409037C>A; NC_000011.9:g.17409037C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000020355.1, RCV000009198.3, RCV000009199.3, RCV000009200.4, RCV000146114.1,


[PMID 16670] The effect of birth on the maturation of hepatic cytochrome(s) P-450 mono-oxygenase and tyrosine aminotransferase activities in the guinea pig.


[PMID 12524280OA-icon.png] Molecular basis for Kir6.2 channel inhibition by adenine nucleotides.


[PMID 15115830] Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.


[PMID 15583126OA-icon.png] Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.


[PMID 16123337] Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.


[PMID 16416420] Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.