• Also known as Val12Met, the SNP is in the ABCG2 gene. The (G) allele encodes the Val.
  • T (minor) allele is associated with lower levels of ABCG2 protein in body (R).

The T (minor) allele is associated with:

  • Increased activity of the drug Pravastatin in patients being treated for hyperlipidaemia (R).

  • Increased risk of tophaceous gout (R). This results in joint pain and arthritis.

  • Possible increase in drug-induced toxicity (R).

  • An increased survival rate in patients undergoing chemotherapy to treat Acute Myeloid Leukemia (R).

  • Increased chance of toxic response following chemotherapy to treat Acute Myeloid Leukemia (R).

The C (major) allele is associated with:

  • Higher resistance to imatinib therapy in chronic myeloid leukemia patients (CC) (R).


Parent Gene: ABCG2

Importance: 4
Less common allele: T = 16%
More common allele: C = 84%
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