Table 2.
Minor allele frequencies of MC1R variants observed among subjects with sole Puerto Rican heritage obtained or recruited from the Puerto Rico Biobank, Community Participant Registry, Morsani Family Medicine clinics, and the 1000 Genomes Project, and overall.
| MC1R variant | rs Number | Pilot study (Na = 251) | 1000 Genomes Project (Na = 104) | Overall (Na = 355) |
|---|---|---|---|---|
| Frequency (%) | Frequency (%) | Frequency (%) | ||
| Non-synonymous | ||||
| F45L | rs767905960 | 0.4 | 0 | 0.3 |
| S47I | rs371156858 | 0.2 | 0 | 0.1 |
| V60L | rs1805005 | 9.2 | 11.5 | 9.9 |
| A64T | rs368501338 | 0.2 | 0 | 0.1 |
| D84E | rs1805006 | 0 | 0 | 0 |
| D84N | rs538777064 | 0 | 0.5 | 0.1 |
| V92M | rs2228479 | 3.8 | 2.9 | 3.5 |
| A111V | rs201489928 | 1.0 | 0 | 0.7 |
| R142C | rs752927306 | 0.2 | 0 | 0.1 |
| R142H | rs11547464 | 0.2 | 0.5 | 0.3 |
| R151C | rs1805007 | 2.4 | 2.4 | 2.4 |
| Y152X | rs201326893 | 0 | 0.5 | 0.1 |
| I155T | rs1110400 | 1.6 | 1.9 | 1.7 |
| R160W | rs1805008 | 0.4 | 0.5 | 0.4 |
| R163Q | rs885479 | 10.8 | 9.6 | 10.4 |
| F196L | rs3212366 | 1.2 | 0.5 | 1.0 |
| D294H | rs1805009 | 2.4 | 1.4 | 2.1 |
| C315R | rs761041641 | 0.4 | 0 | 0.3 |
| Insertion/deletion | 0.6 | 0.5 | 0.6 | |
| g.86_87insA | rs796296176 | 0 | 0.5 | 0.1 |
| g.158_160delTGG | rs779655156 | 0.2 | 0 | 0.1 |
| g.537_538insC | rs555179612 | 0.4 | 0 | 0.3 |
| Synonymous | 5.4 | 0 | 3.8 | |
| L106L | rs3212364 | 0 | 1.0 | 0.3 |
| A111A | rs368745976 | 0.2 | 0.5 | 0.3 |
| I168I | rs34612847 | 0.6 | 0 | 0.4 |
| Y298Y | rs143395134 | 0 | 0.5 | 0.1 |
| F300F | rs3212367 | 1.6 | 1.0 | 1.4 |
| T314T | rs2228478 | 3.0 | 13.5 | 6.1 |
aN = number of participants; number of chromosomes for calculation of minor allele frequencies is double this number.