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rs80356625

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356625(C;T)
Make rs80356625(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position17387491
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs80356625
ebirs80356625
HLIrs80356625
Exacrs80356625
Varsomers80356625
Maprs80356625
PheGenIrs80356625
hapmaprs80356625
1000 genomesrs80356625
hgdprs80356625
ensemblrs80356625
gopubmedrs80356625
geneviewrs80356625
scholarrs80356625
googlers80356625
pharmgkbrs80356625
gwascentralrs80356625
openSNPrs80356625
23andMers80356625
23andMe allrs80356625
SNP Nexus

SNPshotrs80356625
SNPdbers80356625
MSV3drs80356625
GWAS Ctlgrs80356625
Max Magnitude0
OMIM600937
Desc
Variant0004
Relatedalso
ClinVar
Risk rs80356625(T;T)
Alt rs80356625(T;T)
Reference rs80356625(C;C)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus Diabetes mellitus Diabetes mellitus
Variation info
Gene KCNJ11
CLNDBN Permanent neonatal diabetes mellitus Diabetes mellitus, permanent neonatal, with neurologic features Diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17409038G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009202.4, RCV000009203.4, RCV000146113.1,


[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 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.