• The SNP is found on exon 35 of the ABCA1 gene. It causes an amino acid change from Arginine (major) to Lysine (minor).

The T (minor) allele is associated with:

  • Increased levels of total cholesterol (R), but no increased risk of Cardiovascular disease (R).
  •  Lower levels of LDL-cholesterol in women (R).
  •  The T allele was found more commonly in male schizophrenia patients (R). This suggests that the T allele may increase risk of developing schizophrenia.
  • Possible increased risk of Alzheimer’s disease (R). Some studies have not seen this association.


Parent Gene: ABCA1

Importance: 3
Less common allele: T = 46%
More common allele: C = 54%
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