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rs80356618

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356618(G;T)
Make rs80356618(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position17387595
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs80356618
ebirs80356618
HLIrs80356618
Exacrs80356618
Varsomers80356618
Maprs80356618
PheGenIrs80356618
hapmaprs80356618
1000 genomesrs80356618
hgdprs80356618
ensemblrs80356618
gopubmedrs80356618
geneviewrs80356618
scholarrs80356618
googlers80356618
pharmgkbrs80356618
gwascentralrs80356618
openSNPrs80356618
23andMers80356618
23andMe allrs80356618
SNP Nexus

SNPshotrs80356618
SNPdbers80356618
MSV3drs80356618
GWAS Ctlgrs80356618
Merged fromRs193929343
Max Magnitude0
OMIM600937
Desc
Variant0015
Relatedalso
ClinVar
Risk rs80356618(A,T;A,T)
Alt rs80356618(A,T;A,T)
Reference rs80356618(G;G)
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.17409142C>A; NC_000011.9:g.17409142C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009216.3, RCV000020352.1, RCV000020351.1,


[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.