The "T" (minor) allele is associated with:
- Lower bone density and presumably less VDR activity and decreased levels of VDR (T).
- Decreased breast cancer risk (R).
The "C" (major) allele is associated with:
- Higher breast cancer risk in 5/9 studies done (CC) (R).
- Women with CC who consumed more than the median level of calcium had lower breast cancer rates (R).
- 6.8-fold increase in breast cancer risk in women with CC who had low vitamin D3 levels.
- Increased risk of Graves' disease in the Polish population (p = 0.0070) (R).
(intronic G→A replacement, C = b) (R).