Table 3.
Description and LD summary statistics for the candidate structural variants that are most highly correlated with tag SNPs rs451683615 (Chr6 g.64210286A>G) and rs463810013 (Chr6 g.71722665C>T)
| Region spanning CNV | Type | rs451683615 correlation (R2) | rs46381013 correlation (R2) | Closest gene | Maximum R2 | SNP ID | GWAS p-value |
|---|---|---|---|---|---|---|---|
| Chr6:64,092,201–64,092,752 bp | Deletion | 0.172 | 0.099 | KCTD8 | 0.544 | rs110545184 | 3.24 × 10−22 |
| Chr6:65,557,508–65,559,004 bp | Deletion | 0.102 | 0.066 | GNPDA2 | 0.876 | rs384078363 | 3.74 × 10−5 |
| Chr6:65,657,051–65,657,595 bp | Deletion | 0.128 | 0.089 | GNPDA3 | 0.746 | rs383024906 | 2.79 × 10−11 |
| Chr6:68,269,498–68,270,804 bp | Deletion | 0.171 | 0.164 | NFXL1 | 0.569 | rs456305543 | 5.89 × 10−34 |
| Chr6:71,310,834–71,312,202 bp | Deletion | 0.065 | 0.163 | GSX2 | 0.695 | rs466525306 | 4.78 × 10−12 |
| Chr6:72,060,120–72,060,450 bp | Duplication | 0.22 | 0.431 | KIT | 0.432 | rs385773341 | 8.08 × 10−61 |
CNV copy number variant, R2 linkage disequilibrium correlation coefficient, SNP ID single nucleotide polymorphism accession number