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rs193929343

From SNPedia

Merged intors80356618
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193929343(G;T)
Make rs193929343(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position17387595
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs193929343
ebirs193929343
HLIrs193929343
Exacrs193929343
Varsomers193929343
Maprs193929343
PheGenIrs193929343
hapmaprs193929343
1000 genomesrs193929343
hgdprs193929343
ensemblrs193929343
gopubmedrs193929343
geneviewrs193929343
scholarrs193929343
googlers193929343
pharmgkbrs193929343
gwascentralrs193929343
openSNPrs193929343
23andMers193929343
23andMe allrs193929343
SNP Nexus

SNPshotrs193929343
SNPdbers193929343
MSV3drs193929343
GWAS Ctlgrs193929343
StatusMerged into rs80356618
Max Magnitude0
ClinVar
Risk rs193929343(T;T)
Alt rs193929343(T;T)
Reference rs193929343(G;G)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus
Variation info
Gene
CLNDBN Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17409142C>A
CLNSRC GeneReviews
CLNACC SCV000040732.1, SCV000040732.1,


[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.


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