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	MODY	Established
rs1169288	HNF1A HNF1A Ile27Leu	Common coding variant in the HNF1A transcription factor dimerization domain t...	Blood Sugar & Diabetes	MODY	Strong
rs193922339	GCK	Likely-pathogenic GCK missense variant (p.Phe316Tyr) causing glucokinase loss...	Metabolic Enzymes & Rare Disorders	MODY	Strong
rs193929374	GCK GCK Ala378Val (MODY2)	Pathogenic missense variant in glucokinase that raises the glucose set-point ...	Blood Sugar & Diabetes	MODY	Established