|| common in clinvar
|?|| (C;C) (C;T) (T;T) ||28|
|| AFFECT FUNCTION
| Disease Association
|| Defects in the upstream vicinity of LCT are the cause of disaccharide intolerance III (MIM:223100); also known as adult lactase deficiency or adult-type hypolactasia. In many human populations the activity of LCT declines in adults, leading to adult-type hypolactasia, whereas in other populations the high activity persists.
[PMID 15114531] Genetic signatures of strong recent positive selection at the lactase gene.
[PMID 19326473] Natriuretic peptide system gene variants are associated with ventricular dysfunction after coronary artery bypass grafting.
[PMID 20017971] Assessing the impact of global versus local ancestry in association studies.
[PMID 20031626] Variation in the 4q25 chromosomal locus predicts atrial fibrillation after coronary artery bypass graft surgery.
|| not reviewed
|| Insufficiently evaluated not reviewed
[PMID 23420841] Genetic dissection of the preeclampsia susceptibility locus on chromosome 2q22 reveals shared novel risk factors for cardiovascular disease