Tag
MODY
4 genetic variants with this tag.
| RSID | Gene | Description | Category | ||
|---|---|---|---|---|---|
| rs104894007 | GCK Thr228Met (MODY2) | Pathogenic glucokinase missense variant that nearly abolishes enzyme activity... | Blood Sugar & Diabetes | Established | |
| rs1169288 | HNF1A HNF1A Ile27Leu | Common coding variant in the HNF1A transcription factor dimerization domain t... | Blood Sugar & Diabetes | Strong | |
| rs193922339 | GCK | Likely-pathogenic GCK missense variant (p.Phe316Tyr) causing glucokinase loss... | Metabolic Enzymes & Rare Disorders | Strong | |
| rs193929374 | GCK GCK Ala378Val (MODY2) | Pathogenic missense variant in glucokinase that raises the glucose set-point ... | Blood Sugar & Diabetes | Established |