rs193922323
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs193922323(C;C) |
| Make rs193922323(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 44147809 |
| Gene | GCK, LOC105375258 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922323 |
| dbSNP (classic) | rs193922323 |
| ClinGen | rs193922323 |
| ebi | rs193922323 |
| HLI | rs193922323 |
| Exac | rs193922323 |
| Gnomad | rs193922323 |
| Varsome | rs193922323 |
| LitVar | rs193922323 |
| Map | rs193922323 |
| PheGenI | rs193922323 |
| Biobank | rs193922323 |
| 1000 genomes | rs193922323 |
| hgdp | rs193922323 |
| ensembl | rs193922323 |
| geneview | rs193922323 |
| scholar | rs193922323 |
| rs193922323 | |
| pharmgkb | rs193922323 |
| gwascentral | rs193922323 |
| openSNP | rs193922323 |
| 23andMe | rs193922323 |
| SNPshot | rs193922323 |
| SNPdbe | rs193922323 |
| MSV3d | rs193922323 |
| GWAS Ctlg | rs193922323 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193922323(C;C) |
| Alt | rs193922323(C;C) |
| Reference | Rs193922323(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Maturity-onset diabetes of the young |
| Variation | info |
| Gene | GCK |
| CLNDBN | Maturity-onset diabetes of the young, type 2 |
| Reversed | 1 |
| HGVS | NC_000007.13:g.44187408A>G |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000029911.1, |
[PMID 14517946] Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.
[PMID 18399931] Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.
[PMID 19790256] Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
