rs148311934
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs148311934(C;T) |
| Make rs148311934(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 44149763 |
| Gene | GCK, LOC105375258 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs148311934 |
| dbSNP (classic) | rs148311934 |
| ClinGen | rs148311934 |
| ebi | rs148311934 |
| HLI | rs148311934 |
| Exac | rs148311934 |
| Gnomad | rs148311934 |
| Varsome | rs148311934 |
| LitVar | rs148311934 |
| Map | rs148311934 |
| PheGenI | rs148311934 |
| Biobank | rs148311934 |
| 1000 genomes | rs148311934 |
| hgdp | rs148311934 |
| ensembl | rs148311934 |
| geneview | rs148311934 |
| scholar | rs148311934 |
| rs148311934 | |
| pharmgkb | rs148311934 |
| gwascentral | rs148311934 |
| openSNP | rs148311934 |
| 23andMe | rs148311934 |
| SNPshot | rs148311934 |
| SNPdbe | rs148311934 |
| MSV3d | rs148311934 |
| GWAS Ctlg | rs148311934 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs148311934(T;T) |
| Alt | rs148311934(T;T) |
| Reference | Rs148311934(C;C) |
| Significance | Pathogenic |
| Disease | Maturity-onset diabetes of the young not provided |
| Variation | info |
| Gene | GCK |
| CLNDBN | Maturity-onset diabetes of the young, type 2 not provided |
| Reversed | 0 |
| HGVS | NC_000007.13:g.44189362C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000029906.1, RCV000255932.1, |
[PMID 197902] [Neurogenic components of Wilms' tumor].
[PMID 9049484] Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.
[PMID 10525657] Mutants of glucokinase cause hypoglycaemia- and hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasis.
[PMID 12627330] Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha.
[PMID 14517946] Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.
[PMID 20337973] Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations.
