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. Author manuscript; available in PMC: 2013 Oct 19.
Published in final edited form as: Birth Defects Res A Clin Mol Teratol. 2010 Dec 1;91(1):20–28. doi: 10.1002/bdra.20742

Table 1.

Smoking Metabolism Genes: SNP Location, Alleles and Ethnic Frequenciesa

Xenobiotic
phase
Gene SNP Base pair no. Allelesb Locationc Typed cDNA
change
Protein
change
MAF HCFe
I CYP1A1 15q22–24 5.99kb rs2470893 72806502 G/A U 0.30 0.13
rs1048943 72800038 A/G E M 1384A>G Ile462Val 0.04 0.35
rs1456432 72790104 G/A D 0.16 0.44
CYP1A2 15q22-qter 7.76kb rs2472299 72820453 G/A U 0.28 0.27
rs2470890 72834479 C/T E7 S 1548T>C Asn516Asn 0.37 0.68
rs11854147 72839824 C/T D 0.33 0.61
CYP1B1 2p22-p21 8.55kb rs4646429 38160439 A/G U 0.32 0.31
rs10012 38155894 G/C E2 M 142C>G Arg48Gly 0.32 0.33
rs1056836 38151707 G/C E3 M 1294C>G Leu432Val 0.42 0.25
rs163084 38144420 T/C D 0.20 0.14
CYP2A6 19q13.2 6.90kb rs4105144 46050464 C/T U 0.32 0.25
rs7250713 46047035 C/G I2 0.40 0.34
rs7246742 46037235 G/T D 0.13 0.18
EPHX1 1q42.1 20.29kb rs2854450 224079200 C/T U 0.20 0.18
rs1051740 224086256 T/C E3 M 337T>C Tyr113His 0.30 0.41
rs2234922 224093029 A/G E4 M 416A>G His139Arg 0.17 0.08
rs360063 224102932 G/A D 0.44 0.48
II NAT28p23.1-p21.3 9.97kb rs1041983 18302075 C/T E2 S 282C>T Tyr94Tyr 0.33 0.31
rs1801280 18302134 T/C E2 M 341T>C Ile114Thr 0.44 0.32
rs1799929 18302274 C/T E2 S 481C>T Leu161Leu 0.42 0.32
rs1799930 18302383 G/A E2 M 590G>A Arg197Gln 0.30 0.18
rs1799931 18302650 G/A E2 M 857G>A Gly286Glu 0.04 0.13
GSTM1 WT/null Null Null 0.47 0.56
GSTT1 WT/null Null Null 0.20 0.13
a

HCF = Hispanic corresponding frequency to NHW minor allele; MAF = minor allele frequency in non-Hispanic white sample; WT = wild-type.

b

Ancestral allele/alternate allele.

c

U = upstream, E = exon, I = intron, D = downstream.

d

Type of mutation: M = missense; S = synonymous.

e

Values in bold = HCF significantly different from MAF [p < 0.01].