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rs80356615

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356615(A;A)
Make rs80356615(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17387934
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs80356615
ebirs80356615
HLIrs80356615
Exacrs80356615
Varsomers80356615
Maprs80356615
PheGenIrs80356615
hapmaprs80356615
1000 genomesrs80356615
hgdprs80356615
ensemblrs80356615
gopubmedrs80356615
geneviewrs80356615
scholarrs80356615
googlers80356615
pharmgkbrs80356615
gwascentralrs80356615
openSNPrs80356615
23andMers80356615
23andMe allrs80356615
SNP Nexus

SNPshotrs80356615
SNPdbers80356615
MSV3drs80356615
GWAS Ctlgrs80356615
Max Magnitude0
OMIM600937
Desc
Variant0021
Relatedalso
ClinVar
Risk rs80356615(A;A)
Alt rs80356615(A;A)
Reference rs80356615(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.17409481C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009222.3, RCV000020349.1,


[PMID 18073297OA-icon.png] The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy.