Table 5.
HRC tagSNPs in LD with known common CNVs from 1000G that are statistically significantly associated with EOC risk (hg38)a
| tagSNP | Chr | Position | Effect allele | Noneffect allele | CNV start | CNV end | CNV type | Length (bp) | P NMOC | No. sig tagSNPs | P HGSOC | No. sig tagSNPs |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| rs10962691 | 9 | 16915107 | G | C | 16905594 | 16905924 | Deletion | 330 | 1.48E-50 | 3 | 4.38E-68 | 3 |
| rs17689104 | 17 | 45705126 | G | A | 45753354 | 45753478 | Deletion | 124 | 3.12E-12 | 152 | 9.59E-15 | 152 |
| rs17688922 | 17 | 45701985 | A | G | 45753354 | 45753478 | Deletion | 124 | 3.17E-12 | 152 | 9.55E-15 | 152 |
| rs8080583 | 17 | 46085231 | A | C | 46009357 | 46009595 | Deletion | 238 | 1.85E-12 | 179 | 2.32E-15 | 181 |
| rs8080583 | 17 | 46085231 | A | C | 46146541 | 46146855 | Deletion | 314 | 1.85E-12 | 179 | 2.32E-15 | 181 |
a
1000G = 1000 Genomes project; CNV = copy number variant; EOC = epithelial ovarian cancer; HGSOC = high-grade serous ovarian cancer; HRC = Haplotype Reference Consortium; LD = linkage disequilibrium; NMOC = all nonmucinous ovarian cancer; SNP = single nucleotide polymorphism.