Having a C at this position is considered normal.
Having a T at this position increases the risk of heart disease. Approximate 27% of people carry this risky form.
[PMID 19706030] Validation Study of Genetic Associations with Coronary Artery Disease on Chromosome 3q13-21 and Potential Effect Modification by Smoking
[PMID 19864173] Association study of GATA-2 transcription factor gene (GATA2) polymorphism and Parkinson's disease
[PMID 16934006] GATA2 is associated with familial early-onset coronary artery disease.
[PMID 19885677] The transcription factor GATA-2 does not associate with angiographic coronary artery disease in the Ottawa Heart Genomics and Cleveland Clinic GeneBank Studies.