Table 3 of Abu-Amero, Mol Vis 2010; 16:2805-2810.
SNP I.D. |
Nucleotide change |
Amino acid change |
Allele |
PEG patients (n=93) |
Controls (n=101) |
p value |
---|---|---|---|---|---|---|
rs1048661 | g.5758 G>T | R141L | G | 163 (0.876)• | 154 (0.762) | 0.0056 |
rs3825942 | g.5794 G>A | G153D | G | 180 (0.968) | 165 (0.817) | 0.000005 |
rs28706550 | g.25067 A>C | N437H | A | 186 (1) | 202 (1) | N/A |
rs35203737 | g.28103 C>A | S565Y | C | 186 (1) | 202 (1) | N/A |
Novel | g.25722 C>G | D484E | C | 184 (0.99) | 202 (1) | N/A |
Novel | g.28084 T>G | Y559D | T | 185 (0.995) | 202 (1) | N/A |
rs8818 | g.30490 C>G | - | G | 141 (0.758) | 138 (0.683) | 0.126 |
rs3522 | g.30556 C>T | - | C | 116 (0.624) | 125 (0.619) | 0.994 |
rs41429348 | g.6212 C>T | - | C | 186 (1) | 202 (1) | N/A |
rs12906373 | g.6272 C>T | - | C | 186 (1) | 202 (1) | N/A |
rs41435250 | g.6296 G>T | - | G | 186 (1) | 202 (1) | N/A |
rs13329473 | g.25737 C>T | - | C | 186 (1) | 202 (1) | N/A |