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. 2013 Feb 27;21(12):1436–1441. doi: 10.1038/ejhg.2013.25

Table 1. Selected potentially functional ABC SNPs.

Gene SNP Reference SNP no. Description Association with function or disease phenotype Reference numbers
  e12/C1236T rs1128503 G412G Increased exposure to irinotecan in cancer patients Altered ABCB1 expression in 3t3 isogenic fibroblasts Lower ABCB1 expression 36 33 34
ABCB1 e21/G2677T e21/G2677A rs2032582 A893S A893T Less placental trophoblast ABCB1 expression in T and A carriers 29
  e26/C3435T rs1045642 I1145I Alteration in the rate of translation Lower ABCB1 expression Affects mRNA stability 37 34 38
ABCC1 5'FR/G-260C rs504348 5′UTR Evidence of recent positive selection in European-Americans 39
ABCC2 e1/C-24T rs717620 −24C>T Influenced ABCC2 mRNA expression in normal kidney cortex and liver samples but not placenta Evidence of recent positive selection 22, 30, 39 39
  e10/G1249A rs2273697 V471I Decreased ABCC2 mRNA levels in preterm placentas Evidence of recent positive selection 22 39
ABCG2 e5/C421A rs2231142 Q141K Reduced ABCG2 activity Decreased ABCG2 protein level in placenta Evidence of recent positive selection Substrate recognition and/or transport of drugs 40 41 39 42
  e2/G34A rs2231137 V12M Reduced ABCG2 activity Substrate recognition and/or transport of drugs 40 42
  I9/T-357C rs2054576 Intron Alteration of pre-mRNA splicing 43