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rs80356666

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356666(G;G)
Make rs80356666(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2160845
GeneINS, INS-IGF2
is asnp
is mentioned by
dbSNPrs80356666
ebirs80356666
HLIrs80356666
Exacrs80356666
Varsomers80356666
Maprs80356666
PheGenIrs80356666
hapmaprs80356666
1000 genomesrs80356666
hgdprs80356666
ensemblrs80356666
gopubmedrs80356666
geneviewrs80356666
scholarrs80356666
googlers80356666
pharmgkbrs80356666
gwascentralrs80356666
openSNPrs80356666
23andMers80356666
23andMe allrs80356666
SNP Nexus

SNPshotrs80356666
SNPdbers80356666
MSV3drs80356666
GWAS Ctlgrs80356666
Max Magnitude0
OMIM176730
Desc
Variant0009
Relatedalso
ClinVar
Risk rs80356666(G;G)
Alt rs80356666(G;G)
Reference rs80356666(T;T)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus Neonatal diabetes mellitus
Variation info
Gene INS INS-IGF2
CLNDBN Permanent neonatal diabetes mellitus Neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.2182075A>C
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000020204.19, RCV000030069.2,


[PMID 17047922] Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene.


[PMID 18171712] Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group.


[PMID 17855560OA-icon.png] Insulin gene mutations as a cause of permanent neonatal diabetes.


[PMID 20034] A long view of nitrogen metabolism.


[PMID 18162506] Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.


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


[PMID 19817801] A brief perspective on insulin production.


[PMID 19952343OA-icon.png] In vitro processing and secretion of mutant insulin proteins that cause permanent neonatal diabetes.


[PMID 20051530] Unfolding the mechanisms of disease progression in permanent neonatal diabetes.