rs80356655
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 2 | associated with MODY2; maturity onset of diabetes in the young (type 2) |
| Make rs80356655(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 44147830 |
| Gene | GCK, LOC105375258 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356655 |
| dbSNP (classic) | rs80356655 |
| ClinGen | rs80356655 |
| ebi | rs80356655 |
| HLI | rs80356655 |
| Exac | rs80356655 |
| Gnomad | rs80356655 |
| Varsome | rs80356655 |
| LitVar | rs80356655 |
| Map | rs80356655 |
| PheGenI | rs80356655 |
| Biobank | rs80356655 |
| 1000 genomes | rs80356655 |
| hgdp | rs80356655 |
| ensembl | rs80356655 |
| geneview | rs80356655 |
| scholar | rs80356655 |
| rs80356655 | |
| pharmgkb | rs80356655 |
| gwascentral | rs80356655 |
| openSNP | rs80356655 |
| 23andMe | rs80356655 |
| SNPshot | rs80356655 |
| SNPdbe | rs80356655 |
| MSV3d | rs80356655 |
| GWAS Ctlg | rs80356655 |
| Max Magnitude | 2 |
| ClinVar | |
|---|---|
| Risk | rs80356655(T;T) |
| Alt | rs80356655(T;T) |
| Reference | Rs80356655(C;C) |
| Significance | Pathogenic |
| Disease | Maturity-onset diabetes of the young Permanent neonatal diabetes mellitus |
| Variation | info |
| Gene | GCK |
| CLNDBN | Maturity-onset diabetes of the young, type 2 Permanent neonatal diabetes mellitus |
| Reversed | 1 |
| HGVS | NC_000007.13:g.44187429G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000020167.4, RCV000030923.28, |
[PMID 1502186
] Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus.
[PMID 11372010] Neonatal diabetes mellitus due to complete glucokinase deficiency.
