Table 3.
Phenotype | Discovery SNP | Number of Candidate SNVsa | Causal SNV | MAF |
Rank of the Causal SNVb |
||||
---|---|---|---|---|---|---|---|---|---|
D′ | r2 | PLD | PhastCons | Sorting Score | |||||
Crohn disease | rs17221417 | 1,658 | rs2066844 | 0.048 | 1,306 | 26 | 34 | 42 | 1 |
rs2066845 | 0.023 | 1,306 | 89 | 38 | 35 | 2 | |||
Crohn disease | rs2076756 | 1,523 | rs2066845 | 0.023 | 1,195 | 68 | 27 | 31 | 1 |
rs2066844 | 0.048 | 1,195 | 13 | 19 | 37 | 2 | |||
Ribavirin-induced hemolytic anemia | rs6051702 | 1,289 | rs1127354 | 0.081 | 829 | 86 | 49 | 1 | 1 |
rs7270101 | 0.128 | 776 | 22 | 39 | 10 | 2 | |||
Therapeutic warfarin dose | rs4917639 | 1,966 | rs1799853 | 0.134 | 1,586 | 7 | 26 | 10 | 2 |
Bladder cancer | rs11892031 | 516 | rs17863783 | 0.015 | 256 | 102 | 20 | 73 | 37c |
Hearing loss | rs870729 | 1,477 | rs80338945 | 0.002 | 964 | 1145 | 150 | 7 | 5 |
Hearing loss | rs7329467 | 999 | rs35887622 | 0.015 | 574 | 55 | 12 | 70 | 6 |
The following abbreviations are used: SNV, single-nucleotide variant; MAF, minor allele frequency; and PLD, preferential linkage disequilibrium.
Candidate SNVs are the ones obtained at step 1 of the preferential LD approach.
The rank of the causal variant is the number of candidate SNVs with an equal or better value of the corresponding statistic than the causal variant.
The rank of rs17863783 shown here is different from the rank shown on Table 2 because the 14 candidate SNVs with larger sorting scores than rs17863783 did not pass the permutation test at step 3.