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. 2008 Nov 7;4(11):e1000252. doi: 10.1371/journal.pgen.1000252

Table 1. Single SNP and Haplotype Clinical Association Results.

SNP identifier Alleles MAF* Location/Enzyme activity FBAT Z-score ** Haplotype Functional Haplotype
rs9604911*** G/T 0.440 5′ region
rs8137125*** T/G 0.208 intron 2
rs4819757*** T/C 0.166 intron 2
rs17743056 *** C/T 0.063 intron 3
rs367766*** T/C 0.115 intron 3 1.798 C
P = 0.091
rs2016108*** T/C 0.402 intron 3 T
rs4819756 G/A 0.370 Exon 5 R185W 2.153 A G A
30–70% P = 0.043
rs5746640*** G/A 0.438 intron 5
rs16983466*** G/A 0.159 Exon 12 D426
rs2870983 C/T 0.100 Exon 12 A472T 2.305 C T C C
<30% P = 0.033
rs385440*** G/A 0.161 intron 13 −2.110 A A G
P = 0.024
rs450046 T/C 0.120 Exon 14 Q521R −2.409 C C T C T
120% P = 0.026
rs372055*** A/G 0.350 Exon 15 L581 G
Association Positive Positive Negative Negative Positive Negative
Haplotype p value 0.007 0.03 0.019 0.01 0.007 0.022
Haplotypes Global p value 0.053 0.027 0.019 0.010 0.011 0.011

*MAF: minor allele frequency from dbSNP build 126 European population and **FBAT Z score for major allele with uncorrected P.

***: Hapmap Tag SNP.