rs193922401
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs193922401(G;T) |
| Make rs193922401(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 17395914 |
| Gene | ABCC8 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922401 |
| dbSNP (classic) | rs193922401 |
| ClinGen | rs193922401 |
| ebi | rs193922401 |
| HLI | rs193922401 |
| Exac | rs193922401 |
| Gnomad | rs193922401 |
| Varsome | rs193922401 |
| LitVar | rs193922401 |
| Map | rs193922401 |
| PheGenI | rs193922401 |
| Biobank | rs193922401 |
| 1000 genomes | rs193922401 |
| hgdp | rs193922401 |
| ensembl | rs193922401 |
| geneview | rs193922401 |
| scholar | rs193922401 |
| rs193922401 | |
| pharmgkb | rs193922401 |
| gwascentral | rs193922401 |
| openSNP | rs193922401 |
| 23andMe | rs193922401 |
| SNPshot | rs193922401 |
| SNPdbe | rs193922401 |
| MSV3d | rs193922401 |
| GWAS Ctlg | rs193922401 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193922401(T;T) |
| Alt | rs193922401(T;T) |
| Reference | Rs193922401(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Neonatal diabetes mellitus |
| Variation | info |
| Gene | ABCC8 |
| CLNDBN | Neonatal diabetes mellitus |
| Reversed | 1 |
| HGVS | NC_000011.9:g.17417461C>A |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000029262.1, |
[PMID 17919176
] Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period.
[PMID 18025408] Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations.
[PMID 18025464] Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes.
[PMID 18436707] Neonatal diabetes mellitus.
[PMID 19095654] 17beta-Estradiol modulates apoptosis in pancreatic beta-cells by specific involvement of the sulfonylurea receptor (SUR) isoform SUR1.
