Table 1.
SNP | Alleles | Highest minor allele frequencya | cDNA position | Amino acid | Phenotype | Reference |
---|---|---|---|---|---|---|
rs4238001 | G > A | 6% | 4 | G2S | Increased MI risk; Decreased HDL/Elevated LDL (in males); Decreased SR‐BI protein expression | 23, 36, 39, 49 |
rs5889 | C > T | 11% | 502 | G167G | Elevated HDL; Decreased coronary artery disease; | 70 |
rs5892 | C > T | 4% | 905 | F301F | ‐ | |
rs5888 | C > T | 32% | 1050 | A350A | Decreased LDL/Increased BMI (in women); | 23, 37, 40 |
rs61932577 | C > T | 14% | ‐ | Intron | ‐ | |
rs2293440 | T > C | 24% | ‐ | Intron | Altered HDL levels | 71 |
Minor allele frequency as recorded in the 1000 Genomes Project Phase 3, Ensembl database. 46