rs80356670
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs80356670(G;T) |
| Make rs80356670(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 2159917 |
| Gene | INS, INS-IGF2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356670 |
| dbSNP (classic) | rs80356670 |
| ClinGen | rs80356670 |
| ebi | rs80356670 |
| HLI | rs80356670 |
| Exac | rs80356670 |
| Gnomad | rs80356670 |
| Varsome | rs80356670 |
| LitVar | rs80356670 |
| Map | rs80356670 |
| PheGenI | rs80356670 |
| Biobank | rs80356670 |
| 1000 genomes | rs80356670 |
| hgdp | rs80356670 |
| ensembl | rs80356670 |
| geneview | rs80356670 |
| scholar | rs80356670 |
| rs80356670 | |
| pharmgkb | rs80356670 |
| gwascentral | rs80356670 |
| openSNP | rs80356670 |
| 23andMe | rs80356670 |
| SNPshot | rs80356670 |
| SNPdbe | rs80356670 |
| MSV3d | rs80356670 |
| GWAS Ctlg | rs80356670 |
| Max Magnitude | 0 |
| 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 17855560
] Insulin gene mutations as a cause of permanent neonatal diabetes.
