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rs80356663

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356663(A;A)
Make rs80356663(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position2160901
GeneINS, INS-IGF2
is asnp
is mentioned by
dbSNPrs80356663
ebirs80356663
HLIrs80356663
Exacrs80356663
Varsomers80356663
Maprs80356663
PheGenIrs80356663
hapmaprs80356663
1000 genomesrs80356663
hgdprs80356663
ensemblrs80356663
gopubmedrs80356663
geneviewrs80356663
scholarrs80356663
googlers80356663
pharmgkbrs80356663
gwascentralrs80356663
openSNPrs80356663
23andMers80356663
23andMe allrs80356663
SNP Nexus

SNPshotrs80356663
SNPdbers80356663
MSV3drs80356663
GWAS Ctlgrs80356663
Merged fromRs193929380
Max Magnitude0
OMIM176730
Desc
Variant0012
Relatedalso
ClinVar
Risk rs80356663(A,T;A,T)
Alt rs80356663(A,T;A,T)
Reference rs80356663(C;C)
Significance Pathogenic
Disease Neonatal diabetes mellitus Permanent neonatal diabetes mellitus
Variation info
Gene INS INS-IGF2
CLNDBN Neonatal diabetes mellitus Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.2182131G>A; NC_000011.9:g.2182131G>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000030071.1, RCV000014320.19,


[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.