Table 2.
Common haplotype blocks identified in the XP-F patients
| SNP ID | rs3888364 | rs753191 | rs12597883 | rs1175905917 | - | rs8060520 | Haplotype frequency | |
|---|---|---|---|---|---|---|---|---|
| Position (chr16) | 13996140 | 14000581 | 14007563 | 14014425 | 14029926 | 14051776 | ||
| Ref/Alt | A/G | T/A | G/A | T/A | C/T | C/G | ||
| MAF | 0.650 | 0.374 | 0.221 | 0.002 | 0 | 0.311 | JPT | CHB |
| Haplotype 1 | G | A | A | T | C | C | 0.119 | 0.060 |
| Haplotype 2 | A | T | G | T | C | C | 0.190 | 0.185 |
| Haplotype 3 | G | T | G | T | C | G | - | - |
| Haplotype 4 | G | A | G | T | C | C | 0.120 | 0.162 |
| Haplotype 5 | G | A | A | T | C | G | - | 0.056 |
| Sample ID | Haplotype combination | |||||||
| XP136KO | G | A | A | A | C | C | 1 | Allele1 |
| G | A | A | A | C | C | 1 | Allele2 | |
| XP37NG | G | A | A | A | C | C | 1 | |
| G | A | A | A | C | C | 1 | ||
| XP101OS | G | A | A | A | C | C | 1 | |
| G | A | A | A | C | C | 1 | ||
| XP97NG | G | A | A | A | C | C | 1 | |
| G | A | A | A | C | C | 1 | ||
| XP165KO | G | A | A | A | C | C | 1 | |
| G | A | A | A | C | C | 1 | ||
| XP103NG | G | A | A | A | C | C | 1 | |
| G | A | A | A | C | C | 1 | ||
| XP43NG | G | A | A | A | C | C | 1 | |
| G | A | A | A | C | C | 1 | ||
| XP4NG | G | A | A | A | C | C | 1 | |
| A | T | G | T | C | C | 2 | ||
| XP48NG | G | A | A | A | C | C | 1 | |
| A | T | G | T | C | C | 2 | ||
| XP133KO | G | A | A | A | C | C | 1 | |
| A | T | G | T | C | C | 2 | ||
| XP23OS | G | A | A | A | C | C | 1 | |
| A | T | G | T | C | C | 2 | ||
| XP90NG | G | A | A | A | C | C | 1 | |
| A | T | G | T | C | C | 2 | ||
| XP95NG | G | A | A | A | C | C | 1 | |
| A | T | G | T | C | C | 2 | ||
| XP18NG | G | A | A | A | C | C | 1 | |
| G | T | G | T | C | G | 3 | ||
| XP96NG | G | A | A | A | C | C | 1 | |
| G | A | G | T | C | C | 4 | ||
| XP2YO | G | A | A | T | T | G | 5 | |
| G | A | A | T | T | G | 5 | ||
| XP3YO | G | A | A | T | T | G | 5 | |
| G | A | A | T | T | G | 5 | ||