Table 2. Replications without strictly matching phenotypes.
23andMe Phenotype | Published Phenotype | # Replications | Genes |
Liver test | Bilirubin levels | 4 | CHUK, GGT1, SAMM50, UGT1A1 |
High cholesterol | Cholesterol levels (quantitative)a | 19 | ABCG8, APOA1, APOB, CELSR2, CILP2, DNAH11, DOCK7, FADS1, GCKR, HNF1A, LDLR, LIPC (×2), MAFB, NCAN, PCSK9 (×2), TOMM40, TRIB1 |
Gall bladder removal | Gallstones | 1 | ABCG8 |
High blood pressure | Blood pressure (quantitative)a | 8 | ATP2B1, CYP17A1 (×2), CYP1A1, FGF5, SH2B3, ULK4, ZNF652 |
Osteoporosis | Bone mineral density (quantitative)a | 5 | MEF2C, MEPE, OSX, SOX6, SPTBN1 |
Macular degeneration | Advanced age-related macular degeneration | 2 | C2, C3 |
Nicotine abuse | Nicotine dependence | 1 | CHRNA3 |
These phenotypes were measured quantitatively in the published reports, but the corresponding 23andMe phenotypes listed here were measured qualitatively (yes/no).