Table 3.
Allele and genotype frequencies for rs991316
| dbSNP RS ID | rs991316 |
|---|---|
| Minor Allele | C |
| HapMap MAF: MEX | 0.36 |
| HapMap MAF: CEU | 0.52 |
| HapMap MAF: AFR | 0.52 |
| HapMap MAF: ASIAN | 0.04 |
| 1000GENOMES_AF | 0.3970 |
| Present Study Sample | |
| Overall MAF | 0.4 |
| AlcDepClust Phenotype | |
| Affected: | |
| MAF | 0.2568 |
| Genotype counts | 5/28/41 |
| HWE pvalue | 1 |
| Unaffected: | |
| MAF | 0.4347 |
| Genotype counts | 66/174/112 |
| HWE pvalue | 1 |
| AlcDep3 and AlcDep4 Phenotype | |
| Genotype counts | 71/202/153 |
| Frequency | 0.1667/0.4742/0.3592 |
| HWE pvalue | 0.7631 |
The minor allele frequency (MAF) of rs991316 from the 1000 Genomes project (1000GENOMES_AF) was obtained from the dbSNP website (http://www.ncbi.nlm.nih.gov/SNP/). The MAFs for the HapMap ethnicities were obtained from the International HapMap Project website (http://www.hapmap.org). Genotypes for the present study are listed in the order: homozygous_minor/heterozygous/homozygous_major. Abbreviations: MAF = minor allele frequency; HWE = Hardy-Weinberg equilibrium; HapMap MAFs: MEX = Mexican ancestry in Los Angeles, California; CEU = Utah residents with Northern and Western European ancestry; AFR = average MAF of ASW (African ancestry in Southwest USA), LWK (Luhya in Webuye, Kenya), MKK (Maasai in Kinyawa, Kenya), and YRI (Yoruban in Ibadan, Nigeria); ASIAN = average MAF of CHB (Han Chinese in Beijing, China), CHD (Chinese in Metropolitan Denver, Colorado), and JPT (Japanese in Tokyo, Japan).