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rs80356670

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356670(G;T)
Make rs80356670(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2159917
GeneINS, INS-IGF2
is asnp
is mentioned by
dbSNPrs80356670
dbSNP (old)rs80356670
ClinGenrs80356670
ebirs80356670
HLIrs80356670
Exacrs80356670
Gnomadrs80356670
Varsomers80356670
Maprs80356670
PheGenIrs80356670
Biobankrs80356670
1000 genomesrs80356670
hgdprs80356670
ensemblrs80356670
gopubmedrs80356670
geneviewrs80356670
scholarrs80356670
googlers80356670
pharmgkbrs80356670
gwascentralrs80356670
openSNPrs80356670
23andMers80356670
23andMe allrs80356670
SNP Nexus

SNPshotrs80356670
SNPdbers80356670
MSV3drs80356670
GWAS Ctlgrs80356670
Max Magnitude0
ClinVar
Risk rs80356670(T;T)
Alt rs80356670(T;T)
Reference Rs80356670(G;G)
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.2181147C>A
CLNSRC UniProtKB (protein) UniProtKB (variants)
CLNACC RCV000020208.2,


[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.