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rs80356672

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80356672(A;G)
Make rs80356672(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2159862
GeneINS, SIT1
is asnp
is mentioned by
dbSNPrs80356672
ebirs80356672
HLIrs80356672
Exacrs80356672
Varsomers80356672
Maprs80356672
PheGenIrs80356672
hapmaprs80356672
1000 genomesrs80356672
hgdprs80356672
ensemblrs80356672
gopubmedrs80356672
geneviewrs80356672
scholarrs80356672
googlers80356672
pharmgkbrs80356672
gwascentralrs80356672
openSNPrs80356672
23andMers80356672
23andMe allrs80356672
SNP Nexus

SNPshotrs80356672
SNPdbers80356672
MSV3drs80356672
GWAS Ctlgrs80356672
Max Magnitude0
ClinVar
Risk rs80356672(G;G)
Alt rs80356672(G;G)
Reference rs80356672(A;A)
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.2181092T>C
CLNSRC UniProtKB (variants)
CLNACC RCV000020210.2,


[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.