Table 2.
SNP name | Chromosome position | Location | Reference | % Genotype | HWE | MAF | Allele reference vs minor |
rs4851581 | 102418289 | Upstream | NM_003853.3:c.-989A>G | 95.2 | 0.196 | 0.053 | A>G |
rs2293224 | 102419319 | Intron 1 | NM_003853.3:c.-337–242T>C | 96.8 | 0.522 | 0.466 | C>T |
rs2293225* | 102419429 | Intron 1 | NM_003853.3:c.-337–132C>T | 98.6 | 0.129 | 0.167 | C>T |
rs2272127 | 102423413 | Intron 3 | NM_003853.3:c.70+66C>G | 99.9 | 0.149 | 0.195 | C>G |
rs7559479* | 102452327 | 3´-UTR | NM_003853.3:c.*146G>A | 99.7 | 0.42 | 0.277 | A>G |
*Tag-SNP by HapMap in Caucasian patients.
SNP name: dbSNP build 149. Reference: begins in the first nucleotide of exon 1, build 149 and Ensemble release 89.
HWE, Hardy–Weinberg equilibrium; MAF, minor allele frequency.