Table 1. Non-additive genetic interaction of prioritized inter-inter and inter-intra Lead SNP pairs validated in independent GWAS studies.
Entropy-based p-values correspond to the observed statistical pattern of epistasis. SNP rs4509693 was associated with both cis and trans-eQTLs, but all other eQTL relationships were trans. Asterisks are used to indicate intragenic SNPs with host gene listed below.
| Disease | Prioritized SNP pairs | SNPs with synergistic effects | Entropy p-value |
|---|---|---|---|
| Alzheimer’s | rs4509693 (chr10, inter) - rs753129b (chr4, inter) | rs4509693 - rs753129 - rs7081208* | 0.046 |
| rs7081208* (chr10, FRMD4A) - rs9331888* (chr8, CLU, MIR6843) | |||
|
| |||
| Bladder cancer | rs8102137 (chr19, inter) - rs1014971 (chr22, inter) | rs8102137 - rs1014971 | 0.039 |