rs193922400
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs193922400(A;A) |
| Make rs193922400(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 17404524 |
| Gene | ABCC8 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922400 |
| dbSNP (classic) | rs193922400 |
| ClinGen | rs193922400 |
| ebi | rs193922400 |
| HLI | rs193922400 |
| Exac | rs193922400 |
| Gnomad | rs193922400 |
| Varsome | rs193922400 |
| LitVar | rs193922400 |
| Map | rs193922400 |
| PheGenI | rs193922400 |
| Biobank | rs193922400 |
| 1000 genomes | rs193922400 |
| hgdp | rs193922400 |
| ensembl | rs193922400 |
| geneview | rs193922400 |
| scholar | rs193922400 |
| rs193922400 | |
| pharmgkb | rs193922400 |
| gwascentral | rs193922400 |
| openSNP | rs193922400 |
| 23andMe | rs193922400 |
| SNPshot | rs193922400 |
| SNPdbe | rs193922400 |
| MSV3d | rs193922400 |
| GWAS Ctlg | rs193922400 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193922400(A;A) rs193922400(T;T) |
| Alt | rs193922400(A;A) rs193922400(T;T) |
| Reference | Rs193922400(G;G) |
| Significance | Pathogenic |
| Disease | Neonatal diabetes mellitus Transient neonatal diabetes mellitus 2 |
| Variation | info |
| Gene | ABCC8 |
| CLNDBN | Neonatal diabetes mellitus Transient neonatal diabetes mellitus 2 |
| Reversed | 1 |
| HGVS | NC_000011.9:g.17426071C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000029257.1, RCV000193953.1, |
[PMID 16885] Bovine adrenal tyrosine hydroxylase: purification and properties.
[PMID 17389331] New ABCC8 mutations in relapsing neonatal diabetes and clinical features.
[PMID 17446535
] Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
[PMID 17957187] K(ATP) channel pharmacogenomics: from bench to bedside.
[PMID 18436707] Neonatal diabetes mellitus.
[PMID 18767144] Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.
