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rs80356668

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356668(G;G)
Make rs80356668(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2160829
GeneINS, INS-IGF2
is asnp
is mentioned by
dbSNPrs80356668
ebirs80356668
HLIrs80356668
Exacrs80356668
Varsomers80356668
Maprs80356668
PheGenIrs80356668
hapmaprs80356668
1000 genomesrs80356668
hgdprs80356668
ensemblrs80356668
gopubmedrs80356668
geneviewrs80356668
scholarrs80356668
googlers80356668
pharmgkbrs80356668
gwascentralrs80356668
openSNPrs80356668
23andMers80356668
23andMe allrs80356668
SNP Nexus

SNPshotrs80356668
SNPdbers80356668
MSV3drs80356668
GWAS Ctlgrs80356668
Merged fromRs193929385
Max Magnitude0
OMIM176730
Desc
Variant0002
Relatedalso
OMIM176730
Desc
Variant0013
Relatedalso
ClinVar
Risk rs80356668(C,G;C,G)
Alt rs80356668(C,G;C,G)
Reference rs80356668(T;T)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus Hyperproinsulinemia
Variation info
Gene INS INS-IGF2
CLNDBN Permanent neonatal diabetes mellitus Hyperproinsulinemia
Reversed 1
HGVS NC_000011.9:g.2182059A>C; NC_000011.9:g.2182059A>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000014321.25, RCV000014307.19,


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