Table 2.
Rare Allele Frequencies in BLM, WRN, andRECQL
| BLMSNPs | |||||||||||||
| Population | N | B4.1 | B4.2 | B18.1 | B18.2 | B20 | B21.1 | B21.2 | B22 | ||||
| T/C | G/A | T/C | C/G | G/T | C/G | A/C | G/A | ||||||
| AfAm | 148 | C.27 | A.02 | T.40 | G.18 | T.19 | G.36 | C.31 | A.18 | ||||
| Asian | 78 | T.49 | A.28 | C.26 | G.18 | T.15 | G.21 | C.19 | A.19 | ||||
| Cauc | 154 | C.28 | A.12 | C.29 | G.20 | T.30 | G.37 | C.39 | A.15 | ||||
| Hisp | 140 | C.25 | A.13 | C.28 | G.13 | T.23 | G.28 | C.26 | A.12 | ||||
| CEPH | 78 | C.27 | A.12 | C.36 | G.26 | T.26 | G.33 | C.33 | A.24 | ||||
| WRNSNPs | |||||||||||||
| Population | N | W1 | W5 | W12.1 | W12.2 | W15.3 | W18.1 | W18.2 | W20 | W22 | W23 | W26.1 | W26.2 |
| G/A | T/C | T/C | T/A | G/A | G/A | G/T | A/C | T/C | G/C | G/A | G/T | ||
| AfAm | 154 | G.02 | C.01 | C.17 | A.04 | A.12 | A.27 | G.34 | C.23 | T.44 | C.00 | A.00 | T.01 |
| Asian | 78 | G.12 | C.05 | C.13 | A.08 | A.24 | A.32 | T.45 | C.23 | T.30 | C.00 | A.00 | T.00 |
| Cauc | 158 | G.04 | C.06 | C.22 | A.20 | A.27 | A.30 | G.42 | C.25 | T.47 | C.03 | A.03 | T.01 |
| Hisp | 150 | G.15 | C.01 | C.15 | A.14 | A.29 | A.31 | G.50 | C.31 | T.43 | C.01 | A.01 | T.01 |
| CEPH | 78 | G.01 | C.04 | C.21 | A.21 | A.21 | A.31 | G.44 | C.37 | T.43 | C.01 | A.01 | T.01 |
| RECQLSNPs | |||||||||||||
| Population | N | R2 | R10 | R12.1 | R12.2 | R13.1 | R.13.2 | R15.1 | R15.2 | R19 | R25 | R27 | |
| A/C | T/C | G/C | G/T | G/A | G/A | T/C | G/A | G/A | T/C | T/C | |||
| AfAm | 156 | C.10 | C.38 | G.47 | G.47 | G.47 | A.19 | C.19 | G.49 | A.30 | C.47 | C.01 | |
| Asian | 74 | C.01 | C.30 | C.46 | T.46 | A.45 | G.45 | T.45 | A.45 | G.43 | C.05 | C.00 | |
| Cauc | 156 | C.07 | C.33 | C.47 | T.46 | A.46 | A.48 | A.48 | A.46 | C.48 | C.16 | C.04 | |
| Hisp | 152 | C.03 | C.34 | C.47 | T.46 | A.46 | A.45 | A.46 | A.42 | G.43 | C.17 | C.01 | |
| CEPH | 70 | C.06 | C.27 | C.40 | T.40 | A.39 | A.49 | A.47 | A.40 | G.50 | C.09 | C.04 | |
-
N denotes the number of chromosomes screened in each group. Only the grandparental chromosomes were considered in the CEPH pedigrees. In each case, the case of the rare allele is followed by its frequency. SNP names are as in Table 1.
