Table 2.
MC1R SNP genotypes and minor allele frequencies.
| MC1R SNP | Amino acid substitution | rs identifier | Successfully genotyped (N) | Common allele homozygous (N)a | Heterozygous (N)a | Variant allele homozygous (N)a | Minor Allele Frequency (%)b |
|---|---|---|---|---|---|---|---|
| MC1RV60L | Val60Leu | rs1805005 | 1,246 | 962 | 265 | 19 | 12% |
| MC1RD84E | Asp84Glu | rs1805006 | 1,244 | 1,216 | 28 | 0 | 1% |
| MC1RV92M | Val92Met | rs2228479 | 1,246 | 1,042 | 198 | 6 | 8% |
| MC1RR142H | Arg142His | rs11547464 | 1,246 | 1,231 | 15 | 0 | 1% |
| MC1RR151C | Arg151Cys | rs1805007 | 1,244 | 1,057 | 179 | 8 | 8% |
| MC1RR163Q | Arg163Gln | rs885479 | 1,246 | 1,098 | 137 | 11 | 6% |
| MC1RD294H | Asp294His | rs1805009 | 1,245 | 1,204 | 34 | 7 | 2% |
| MC1RT314T | Thr314Thr | rs2228478 | 1,246 | 979 | 258 | 9 | 11% |
a
Number of subjects with each corresponding genotype.
b
Minor allele frequency (MAF) was calculated by the equation MAF = ((2 × SNP homozygotes) + (Heterozygotes)) / (2N).