Allele frequencies of 6 dimorphic SNPs located within the VHL gene and flanking regions in healthy individuals and subjects bearing the 598C>T base change
Polymorphism . | Allele . | Normal N = 4 . | Heterozygotes N = 10 . | Homozygotes N = 16 . |
|---|---|---|---|---|
| rs776517 | A | 1.0 | 0.3 | 0.0 |
| 3 kb 5′ to VHL | G | 0.0 | 0.7 | 1.0 |
| (10, 109, 403 bp) | ||||
| rs265318 | A | 1.0 | 0.4 | 0.0 |
| 3 kb 5′ to VHL | C | 0.0 | 0.6 | 1.0 |
| (10, 109, 505 bp) | ||||
| rs374645 | C | 1.0 | 0.5 | 0.0 |
| Intron 1 VHL | T | 0.0 | 0.5 | 1.0 |
| (10, 116, 017) | ||||
| rs2600005 | A | 0.0 | 0.6 | 1.0 |
| Intron 2 VHL | G | 1.0 | 0.4 | 0.0 |
| (10, 119, 507) | ||||
| rs166538 | C | 0.5 | 0.9 | 1.0 |
| 3 kb 3′ to VHL | T | 0.5 | 0.1 | 0.0 |
| (10, 127, 692 bp) | ||||
| rs458952 | A | 0.0 | 0.7 | 1.0 |
| 8 kb 3′ to VHL | G | 1.0 | 0.3 | 0.0 |
| (10, 132, 640 bp) |
Polymorphism . | Allele . | Normal N = 4 . | Heterozygotes N = 10 . | Homozygotes N = 16 . |
|---|---|---|---|---|
| rs776517 | A | 1.0 | 0.3 | 0.0 |
| 3 kb 5′ to VHL | G | 0.0 | 0.7 | 1.0 |
| (10, 109, 403 bp) | ||||
| rs265318 | A | 1.0 | 0.4 | 0.0 |
| 3 kb 5′ to VHL | C | 0.0 | 0.6 | 1.0 |
| (10, 109, 505 bp) | ||||
| rs374645 | C | 1.0 | 0.5 | 0.0 |
| Intron 1 VHL | T | 0.0 | 0.5 | 1.0 |
| (10, 116, 017) | ||||
| rs2600005 | A | 0.0 | 0.6 | 1.0 |
| Intron 2 VHL | G | 1.0 | 0.4 | 0.0 |
| (10, 119, 507) | ||||
| rs166538 | C | 0.5 | 0.9 | 1.0 |
| 3 kb 3′ to VHL | T | 0.5 | 0.1 | 0.0 |
| (10, 127, 692 bp) | ||||
| rs458952 | A | 0.0 | 0.7 | 1.0 |
| 8 kb 3′ to VHL | G | 1.0 | 0.3 | 0.0 |
| (10, 132, 640 bp) |
rs number indicates reference number in SNPs database from NCBI; bp, location on chromosome 3 reference contig NT-005927 (NCBI); and N, number of alleles