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rs80356669

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356669(C;T)
Make rs80356669(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2159920
GeneINS, INS-IGF2
is asnp
is mentioned by
dbSNPrs80356669
ebirs80356669
HLIrs80356669
Exacrs80356669
Varsomers80356669
Maprs80356669
PheGenIrs80356669
hapmaprs80356669
1000 genomesrs80356669
hgdprs80356669
ensemblrs80356669
gopubmedrs80356669
geneviewrs80356669
scholarrs80356669
googlers80356669
pharmgkbrs80356669
gwascentralrs80356669
openSNPrs80356669
23andMers80356669
23andMe allrs80356669
SNP Nexus

SNPshotrs80356669
SNPdbers80356669
MSV3drs80356669
GWAS Ctlgrs80356669
Max Magnitude0
OMIM176730
Desc
Variant0010
Relatedalso
ClinVar
Risk rs80356669(T;T)
Alt rs80356669(T;T)
Reference rs80356669(C;C)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus
Variation info
Gene INS IGF2 INS-IGF2
CLNDBN Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.2181150G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000020207.27,


[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.