rs193921338
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs193921338(A;A) |
| Make rs193921338(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 44145590 |
| Gene | GCK |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193921338 |
| dbSNP (classic) | rs193921338 |
| ClinGen | rs193921338 |
| ebi | rs193921338 |
| HLI | rs193921338 |
| Exac | rs193921338 |
| Gnomad | rs193921338 |
| Varsome | rs193921338 |
| LitVar | rs193921338 |
| Map | rs193921338 |
| PheGenI | rs193921338 |
| Biobank | rs193921338 |
| 1000 genomes | rs193921338 |
| hgdp | rs193921338 |
| ensembl | rs193921338 |
| geneview | rs193921338 |
| scholar | rs193921338 |
| rs193921338 | |
| pharmgkb | rs193921338 |
| gwascentral | rs193921338 |
| openSNP | rs193921338 |
| 23andMe | rs193921338 |
| SNPshot | rs193921338 |
| SNPdbe | rs193921338 |
| MSV3d | rs193921338 |
| GWAS Ctlg | rs193921338 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193921338(A;A) rs193921338(T;T) |
| Alt | rs193921338(A;A) rs193921338(T;T) |
| Reference | Rs193921338(C;C) |
| Significance | Probable-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 | 1 |
| HGVS | NC_000007.13:g.44185189G>A; NC_000007.13:g.44185189G>T |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000029845.1, RCV000493278.1, RCV000029844.1, |
[PMID 14517946] Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.
[PMID 14517956] Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).
[PMID 20337973] Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations.
