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rs193922401

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922401(G;T)
Make rs193922401(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position17395914
GeneABCC8
is asnp
is mentioned by
dbSNPrs193922401
ebirs193922401
HLIrs193922401
Exacrs193922401
Varsomers193922401
Maprs193922401
PheGenIrs193922401
hapmaprs193922401
1000 genomesrs193922401
hgdprs193922401
ensemblrs193922401
gopubmedrs193922401
geneviewrs193922401
scholarrs193922401
googlers193922401
pharmgkbrs193922401
gwascentralrs193922401
openSNPrs193922401
23andMers193922401
23andMe allrs193922401
SNP Nexus

SNPshotrs193922401
SNPdbers193922401
MSV3drs193922401
GWAS Ctlgrs193922401
Max Magnitude0
ClinVar
Risk rs193922401(T;T)
Alt rs193922401(T;T)
Reference rs193922401(G;G)
Significance Probable-Pathogenic
Disease Neonatal diabetes mellitus
Variation info
Gene ABCC8
CLNDBN Neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17417461C>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029262.1,


[PMID 17919176] Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period.


[PMID 18025408] Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations.


[PMID 18025464OA-icon.png] Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes.


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


[PMID 19095654] 17beta-Estradiol modulates apoptosis in pancreatic beta-cells by specific involvement of the sulfonylurea receptor (SUR) isoform SUR1.