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rs80356667

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356667(G;T)
Make rs80356667(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2160832
GeneINS, SIT1
is asnp
is mentioned by
dbSNPrs80356667
ebirs80356667
HLIrs80356667
Exacrs80356667
Varsomers80356667
Maprs80356667
PheGenIrs80356667
hapmaprs80356667
1000 genomesrs80356667
hgdprs80356667
ensemblrs80356667
gopubmedrs80356667
geneviewrs80356667
scholarrs80356667
googlers80356667
pharmgkbrs80356667
gwascentralrs80356667
openSNPrs80356667
23andMers80356667
23andMe allrs80356667
SNP Nexus

SNPshotrs80356667
SNPdbers80356667
MSV3drs80356667
GWAS Ctlgrs80356667
Max Magnitude0
ClinVar
Risk rs80356667(T;T)
Alt rs80356667(T;T)
Reference rs80356667(G;G)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus
Variation info
Gene INS INS-IGF2
CLNDBN Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.2182062C>A
CLNSRC UniProtKB (variants)
CLNACC RCV000020205.2,


[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.