Table I.
SNP ID no. | Description nucleotide/amino acid | No. of homozygotes in patients (sex) | No. of heterozygotes in patients (sex) | MAF of patients (n=33) | MAF of controls (n=51) |
---|---|---|---|---|---|
Novel | c.349T>A/p.Leu117Met | 0 | 2 (M:2; F:0) | 0.03 | - |
rs11676272 | c.319T>C/p.Ser107Pro | 10 (M:5; F:5) | 13 (M:5; F:8) | 0.50 | - |
rs2241758 | c.1167C>G/p.Leu389= | 0 | 3 (M:1; F:2) | 0.05 | 0.06 |
rs7604576 | c.2578-3T>C/NA | 9 (M:5; F:4) | 14 (M:6; F:8) | 0.48 | - |
rs1127568 | c.2874A>G/p.Ser958= | 21 (M:12; F:9) | 9 (M:2; F:7) | 0.77 | 0.62 |
MAF, minor allele frequency; NA, not available; M, male; F, female.