Allele frequencies of 8 SNPs of VHL haplotype
. | . | Chuvash . | . | . | Non-Chuvash . | . | . | . | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SNPs and alleles . | Distance from 598C> T, kb . | Homozygotes, n = 61 . | Heterozygotes, n = 11 . | Healthy individuals, n = 78 . | Homozygotes, n = 11 . | Heterozygotes, n = 18 . | Healthy individuals, n = 369 . | Founder haplotype* . | ||||
| rs1056286, upstream | ||||||||||||
| T | 234.8 | 0.97 | 0.41 | 0.46 | 1.00 | 0.58 | 0.36 | T | ||||
| C | 234.8 | 0.03 | 0.59 | 0.54 | 0.00 | 0.42 | 0.64 | T | ||||
| rs722509, upstream | ||||||||||||
| A | 89.8 | 0.00 | 0.09 | 0.15 | 0.00 | 0.17 | 0.20 | T | ||||
| T | 89.8 | 1.00 | 0.91 | 0.85 | 1.00 | 0.83 | 0.80 | T | ||||
| rs779805, 5′-UTR of VHL | ||||||||||||
| A | 8.3 | 0.00 | 0.59 | 0.67 | 0.00 | 0.28 | 0.61 | G | ||||
| G | 8.3 | 1.00 | 0.41 | 0.33 | 1.00 | 0.72 | 0.39 | G | ||||
| rs779808, intron 1 of VHL | ||||||||||||
| T | 6.6 | 0.00 | 0.59 | 0.67 | 0.00 | 0.25 | 0.60 | C | ||||
| c | 6.6 | 1.00 | 0.41 | 0.33 | 1.00 | 0.75 | 0.40 | C | ||||
| rs1678607, intron 2 of VHL | ||||||||||||
| A | 3.2 | 1.00 | 0.32 | 0.15 | 1.00 | 0.56 | 0.13 | A | ||||
| C | 3.2 | 0.00 | 0.68 | 0.85 | 0.00 | 0.44 | 0.87 | A | ||||
| 1149A>G, 3′-UTR of VHL | ||||||||||||
| A | 0.3 | 0.00 | 0.55 | 0.68 | 0.00 | 0.31 | 0.61 | G | ||||
| G | 0.3 | 1.00 | 0.45 | 0.32 | 1.00 | 0.69 | 0.39 | G | ||||
| rs696356, downstream | ||||||||||||
| A | 47.7 | 0.01 | 0.32 | 0.31 | 0.00 | 0.22 | 0.33 | C | ||||
| C | 47.7 | 0.99 | 0.68 | 0.69 | 1.00 | 0.78 | 0.67 | C | ||||
| rs378630, downstream | ||||||||||||
| A | 105.7 | 0.73 | 0.36 | 0.37 | 0.73 | 0.33 | 0.34 | A | ||||
| C | 105.7 | 0.27 | 0.64 | 0.63 | 0.27 | 0.67 | 0.66 | A | ||||
. | . | Chuvash . | . | . | Non-Chuvash . | . | . | . | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SNPs and alleles . | Distance from 598C> T, kb . | Homozygotes, n = 61 . | Heterozygotes, n = 11 . | Healthy individuals, n = 78 . | Homozygotes, n = 11 . | Heterozygotes, n = 18 . | Healthy individuals, n = 369 . | Founder haplotype* . | ||||
| rs1056286, upstream | ||||||||||||
| T | 234.8 | 0.97 | 0.41 | 0.46 | 1.00 | 0.58 | 0.36 | T | ||||
| C | 234.8 | 0.03 | 0.59 | 0.54 | 0.00 | 0.42 | 0.64 | T | ||||
| rs722509, upstream | ||||||||||||
| A | 89.8 | 0.00 | 0.09 | 0.15 | 0.00 | 0.17 | 0.20 | T | ||||
| T | 89.8 | 1.00 | 0.91 | 0.85 | 1.00 | 0.83 | 0.80 | T | ||||
| rs779805, 5′-UTR of VHL | ||||||||||||
| A | 8.3 | 0.00 | 0.59 | 0.67 | 0.00 | 0.28 | 0.61 | G | ||||
| G | 8.3 | 1.00 | 0.41 | 0.33 | 1.00 | 0.72 | 0.39 | G | ||||
| rs779808, intron 1 of VHL | ||||||||||||
| T | 6.6 | 0.00 | 0.59 | 0.67 | 0.00 | 0.25 | 0.60 | C | ||||
| c | 6.6 | 1.00 | 0.41 | 0.33 | 1.00 | 0.75 | 0.40 | C | ||||
| rs1678607, intron 2 of VHL | ||||||||||||
| A | 3.2 | 1.00 | 0.32 | 0.15 | 1.00 | 0.56 | 0.13 | A | ||||
| C | 3.2 | 0.00 | 0.68 | 0.85 | 0.00 | 0.44 | 0.87 | A | ||||
| 1149A>G, 3′-UTR of VHL | ||||||||||||
| A | 0.3 | 0.00 | 0.55 | 0.68 | 0.00 | 0.31 | 0.61 | G | ||||
| G | 0.3 | 1.00 | 0.45 | 0.32 | 1.00 | 0.69 | 0.39 | G | ||||
| rs696356, downstream | ||||||||||||
| A | 47.7 | 0.01 | 0.32 | 0.31 | 0.00 | 0.22 | 0.33 | C | ||||
| C | 47.7 | 0.99 | 0.68 | 0.69 | 1.00 | 0.78 | 0.67 | C | ||||
| rs378630, downstream | ||||||||||||
| A | 105.7 | 0.73 | 0.36 | 0.37 | 0.73 | 0.33 | 0.34 | A | ||||
| C | 105.7 | 0.27 | 0.64 | 0.63 | 0.27 | 0.67 | 0.66 | A | ||||
n indicates number of people.
P < 10-7 for linkage disequilibrium for each SNP with VHL 598C> T mutation.