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rs80356617

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356617(G;G)
Make rs80356617(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position17387916
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs80356617
ebirs80356617
HLIrs80356617
Exacrs80356617
Varsomers80356617
Maprs80356617
PheGenIrs80356617
hapmaprs80356617
1000 genomesrs80356617
hgdprs80356617
ensemblrs80356617
gopubmedrs80356617
geneviewrs80356617
scholarrs80356617
googlers80356617
pharmgkbrs80356617
gwascentralrs80356617
openSNPrs80356617
23andMers80356617
23andMe allrs80356617
SNP Nexus

SNPshotrs80356617
SNPdbers80356617
MSV3drs80356617
GWAS Ctlgrs80356617
Max Magnitude0
OMIM600937
Desc
Variant0005
Relatedalso
ClinVar
Risk rs80356617(G;G)
Alt rs80356617(G;G)
Reference rs80356617(T;T)
Significance Pathogenic
Disease Diabetes mellitus Permanent neonatal diabetes mellitus
Variation info
Gene KCNJ11
CLNDBN Diabetes mellitus, permanent neonatal, with neurologic features Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17409463A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009204.3, RCV000020350.1,


[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.