TABLE 3.
LD and Functional Prediction Scores of Statistical Top Hit and Proposed Causal SNPs
SNP | r2 with rs356182 1000 Genomes/Present Study | LINSIGHT Score | Phred-Scaled CADD |
---|---|---|---|
rs356182 | — | 10.0 | 10.68 |
rs356165 | 0.76/0.81 | 0.055 | 4.58 |
rs356168 | 0.49/0.55 | 0.096 | 5.87 |
Note the moderate LD values indicating that rs356182 would not be a likely top hit merely by virtue of tagging any of the other proposed functional SNPs. Prediction tools favor a hypothesis of rs356182 as functional in itself.
CADD = Combined Annotation and Depletion algorithm; LD = linkage disequilibrium; SNP = single nucleotide polymorphism.