Table 3.
CRISPLD2 SNPs: HardyWeinberg Equilibrium (HWE), allele and genotype frequencies as calculated from the proband trios.
| SNP MINOR ALLELE | SNP GENOTYPE FREQUENCY | |||||
|---|---|---|---|---|---|---|
| Populationa/SNP | Minor Allele | MinorAllele Frequency (MAF) | Minor Allele Homozygote | Heterozygote | Common Allele Homozygote | HWE p-value |
| South/Central American | ||||||
| rs1546124 | G | 29% | 10% | 37% | 53% | 0.15 |
| rs8061351 | ng | ng | ng | ng | ng | ng |
| rs2326398 | G | 22% | 5% | 36% | 59% | 0.29 |
| rs4783099 | ng | ng | ng | ng | ng | ng |
| Hispanic | ||||||
| rs1546124 | G | 30% | 11% | 38% | 51% | 0.10 |
| rs8061351 | C | 33% | 11% | 43% | 46% | 0.84 |
| rs2326398 | G | 24% | 6% | 36% | 58% | 1.0 |
| rs4783099 | T | 43% | 16% | 54% | 30% | 0.38 |
| ALL Caucasian | ||||||
| rs1546124 | G | 32% | 11% | 41% | 48% | 0.12 |
| rs8061351 | C | 28% | 8% | 39% | 53% | 0.62 |
| rs2326398 | G | 33% | 10% | 45% | 45% | 0.63 |
| rs4783099 | T | 36% | 11% | 50% | 39% | 0.0006 |
| North American Caucasian | ||||||
| rs1546124 | G | 32% | 11% | 41% | 48% | 0.14 |
| rs8061351 | C | 28% | 8% | 39% | 53% | 0.49 |
| rs2326398 | G | 32% | 11% | 43% | 46% | 0.72 |
| rs4783099 | T | 37% | 11% | 50% | 39% | 0.006 |
| Asian | ||||||
| rs1546124 | C | 47% | 21% | 51% | 28% | 0.70 |
| rs8061351 | C | 38% | 16% | 44% | 40% | 0.25 |
| rs2326398 | A | 26% | 7% | 38% | 55% | 0.81 |
| rs4783099 | C | 42% | 18% | 50% | 33% | 0.75 |
a
Population subgroups (see Table 1): South/Central American=Guatemala and ECLAMC; Hispanic=Guatamala, ECLAMC, Texas-Hispanic; ALL Caucasian=Iowa, Texas-Caucasian, Pittsburgh and St Louis, Madrid, Hungary, Turkey; North American Caucasian=Iowa, Texas-Caucasian, Pittsburgh and St Louis;Asian= Philippines, China
b
ng = not genotyped