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rs80356616

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356616(A;A)
Make rs80356616(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17387917
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs80356616
ebirs80356616
HLIrs80356616
Exacrs80356616
Varsomers80356616
Maprs80356616
PheGenIrs80356616
hapmaprs80356616
1000 genomesrs80356616
hgdprs80356616
ensemblrs80356616
gopubmedrs80356616
geneviewrs80356616
scholarrs80356616
googlers80356616
pharmgkbrs80356616
gwascentralrs80356616
openSNPrs80356616
23andMers80356616
23andMe allrs80356616
SNP Nexus

SNPshotrs80356616
SNPdbers80356616
MSV3drs80356616
GWAS Ctlgrs80356616
Max Magnitude0
OMIM600937
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80356616(A;A)
Alt rs80356616(A;A)
Reference rs80356616(G;G)
Significance Pathogenic
Disease Diabetes mellitus Permanent neonatal diabetes mellitus Neonatal insulin-dependent diabetes mellitus
Variation info
Gene KCNJ11
CLNDBN Diabetes mellitus, permanent neonatal, with neurologic features Permanent neonatal diabetes mellitus Neonatal insulin-dependent diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17409464C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009201.4, RCV000030665.3, RCV000146104.1,


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

[PMID 15580558] KCNJ11 activating mutations in Italian patients with 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 16670688] KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.