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.