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

rs193929349

From SNPedia

Merged intors80356624
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193929349(A;A)
Make rs193929349(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17387490
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs193929349
ebirs193929349
HLIrs193929349
Exacrs193929349
Varsomers193929349
Maprs193929349
PheGenIrs193929349
hapmaprs193929349
1000 genomesrs193929349
hgdprs193929349
ensemblrs193929349
gopubmedrs193929349
geneviewrs193929349
scholarrs193929349
googlers193929349
pharmgkbrs193929349
gwascentralrs193929349
openSNPrs193929349
23andMers193929349
23andMe allrs193929349
SNP Nexus

SNPshotrs193929349
SNPdbers193929349
MSV3drs193929349
GWAS Ctlgrs193929349
StatusMerged into rs80356624
Max Magnitude0
ClinVar
Risk rs193929349(A;A)
Alt rs193929349(A;A)
Reference rs193929349(G;G)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus Transient neonatal diabetes mellitus 3
Variation info
Gene
CLNDBN Permanent neonatal diabetes mellitus Transient neonatal diabetes mellitus 3
Reversed 1
HGVS NC_000011.9:g.17409037C>T
CLNSRC OMIM Allelic Variant GeneReviews
CLNACC SCV000029415.1, SCV000029415.1, SCV000029417.1, SCV000029417.1, SCV000040738.1, SCV000040738.1,


[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.