We interrogated the associations for 12,420 functionally important variants, including 11,979 missense, 58 nonsense, 70 splice site and 45 frameshift mutations, and 276 CNVs, by mapping these variants to the nearest genotype markers within ±1 Mb. We found that 650 functionally important variants were associated with 97 classic phenotypes, including 634 missense variants that were associated with 62 phenotypes (Supplementary Data 14).
