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rs80356611

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356611(C;C)
Make rs80356611(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17387943
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs80356611
ebirs80356611
HLIrs80356611
Exacrs80356611
Varsomers80356611
Maprs80356611
PheGenIrs80356611
hapmaprs80356611
1000 genomesrs80356611
hgdprs80356611
ensemblrs80356611
gopubmedrs80356611
geneviewrs80356611
scholarrs80356611
googlers80356611
pharmgkbrs80356611
gwascentralrs80356611
openSNPrs80356611
23andMers80356611
23andMe allrs80356611
SNP Nexus

SNPshotrs80356611
SNPdbers80356611
MSV3drs80356611
GWAS Ctlgrs80356611
Merged fromRs193929336
Max Magnitude0
OMIM600937
Desc
Variant0006
Relatedalso
ClinVar
Risk rs80356611(A,C;A,C)
Alt rs80356611(A,C;A,C)
Reference rs80356611(G;G)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus Neonatal diabetes mellitus
Variation info
Gene KCNJ11
CLNDBN Permanent neonatal diabetes mellitus Neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17409490C>G; NC_000011.9:g.17409490C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009205.4, RCV000030103.1,


[PMID 16636OA-icon.png] Rapid formation of carcinogenic N-nitrosamines in aqueous alkaline solutions.


[PMID 15561897] Toward linking structure with function in ATP-sensitive K+ channels.


[PMID 16731833] Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.


[PMID 16885550] Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.


[PMID 17635943] Molecular basis of neonatal diabetes in Japanese patients.


[PMID 18767144] Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. [PMID 15580558] KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.