Table 4.
Frequencies of the haplotypes with p.Gln6∗ mutation in 12 cases and 1468 controls.
| SNP | Mutation | Location | Chr. position | Nucleotide change | Haplotype 1 | Haplotype 2 | Haplotype 3 | |
|---|---|---|---|---|---|---|---|---|
| Rs12470143 | Intron 1 | 31763558 | C>T | C | T | C | ||
| Rs12470196 | Intron 1 | 31763752 | C>T | C | T | C | ||
| Rs57971483 | Intron 1 | 31765510 | C>T | T | C | T | ||
| Rs4952220 | Intron 1 | 31765556 | A>C | C | A | C | ||
| Rs2300697 | Intron 1 | 31786637 | C>T | C | T | T | ||
| Rs2300698 | Intron 1 | 31786793 | A>G | A | G | G | ||
| Rs2300699 | Intron 1 | 31786967 | G>T | G | T | T | ||
| Rs2300700 | Intron 1 | 31786992 | A>G | G | A | G | ||
| Rs2300701 | Intron 1 | 31787008 | A>G | A | G | G | ||
| Rs522638 | Intron 1 | 31805675 | A>G | A | G | G | ||
| Rs523349 | Exon 1 | 31805706 | C>G | G | C | C | ||
| Rs632148 | 5′-UTR | 31806031 | C>G | C | G | G | ||
| Control (allele) | 1494 | 250 | 936 | |||||
| p.Gln6∗ | Exon 1 | 31805954 | C>T | T | C | C | T | |
| Case (allele) | 5 | 5 | 1 | 1 | ||||