rs193929374
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs193929374(C;T) |
| Make rs193929374(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 44145617 |
| Gene | GCK |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193929374 |
| dbSNP (classic) | rs193929374 |
| ClinGen | rs193929374 |
| ebi | rs193929374 |
| HLI | rs193929374 |
| Exac | rs193929374 |
| Gnomad | rs193929374 |
| Varsome | rs193929374 |
| LitVar | rs193929374 |
| Map | rs193929374 |
| PheGenI | rs193929374 |
| Biobank | rs193929374 |
| 1000 genomes | rs193929374 |
| hgdp | rs193929374 |
| ensembl | rs193929374 |
| geneview | rs193929374 |
| scholar | rs193929374 |
| rs193929374 | |
| pharmgkb | rs193929374 |
| gwascentral | rs193929374 |
| openSNP | rs193929374 |
| 23andMe | rs193929374 |
| SNPshot | rs193929374 |
| SNPdbe | rs193929374 |
| MSV3d | rs193929374 |
| GWAS Ctlg | rs193929374 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193929374(T;T) |
| Alt | rs193929374(T;T) |
| Reference | Rs193929374(C;C) |
| Significance | Pathogenic |
| Disease | Permanent neonatal diabetes mellitus |
| Variation | info |
| Gene | GCK |
| CLNDBN | Permanent neonatal diabetes mellitus |
| Reversed | 1 |
| HGVS | NC_000007.13:g.44185216G>A |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000020165.1, |
[PMID 14578306] Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway.
