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rs193922400

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922400(A;A)
Make rs193922400(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17404524
GeneABCC8
is asnp
is mentioned by
dbSNPrs193922400
ebirs193922400
HLIrs193922400
Exacrs193922400
Varsomers193922400
Maprs193922400
PheGenIrs193922400
hapmaprs193922400
1000 genomesrs193922400
hgdprs193922400
ensemblrs193922400
gopubmedrs193922400
geneviewrs193922400
scholarrs193922400
googlers193922400
pharmgkbrs193922400
gwascentralrs193922400
openSNPrs193922400
23andMers193922400
23andMe allrs193922400
SNP Nexus

SNPshotrs193922400
SNPdbers193922400
MSV3drs193922400
GWAS Ctlgrs193922400
Max Magnitude0
ClinVar
Risk rs193922400(A,T;A,T)
Alt rs193922400(A,T;A,T)
Reference rs193922400(G;G)
Significance Pathogenic
Disease Neonatal diabetes mellitus Transient neonatal diabetes mellitus 2
Variation info
Gene ABCC8
CLNDBN Neonatal diabetes mellitus Transient neonatal diabetes mellitus 2
Reversed 1
HGVS NC_000011.9:g.17426071C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029257.1, RCV000193953.1,


[PMID 16885] Bovine adrenal tyrosine hydroxylase: purification and properties.


[PMID 17389331] New ABCC8 mutations in relapsing neonatal diabetes and clinical features.


[PMID 17446535] Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.


[PMID 17957187OA-icon.png] K(ATP) channel pharmacogenomics: from bench to bedside.


[PMID 18436707OA-icon.png] Neonatal diabetes mellitus.


[PMID 18767144] Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.