Table 1.
Variants Responsible for the Associations Detected by GWASs
Phenotype | Gene |
Causal Variants |
GWAS Variants |
References | ||
---|---|---|---|---|---|---|
Name | MAF | Name | MAF | |||
Crohn disease | NOD2 | rs2066844 | 4.1% | rs17221417 | 28.7% | Wang et al.4 |
rs2066845 | 1.5% | |||||
rs2066847 | 1.9% | |||||
Ribavirin-induced hemolytic anemia | ITPA | rs1127354 | 7.6% | rs6051702 | 19.4% | Fellay et al.5 |
rs7270101 | 12.3% | |||||
Therapeutic warfarin dose | CYP2C9 | rs1799853 | 11% | rs4917639 | 18% | Takeuchi et al.9 and Wadelius et al.10 |
rs1057910 | 7% | |||||
Bladder cancer | UGT1A6 | rs17863783 | 2.5% | rs11892031 | 8.5% | Tang et al.11 |
Low-density lipoprotein cholesterol | PCSK9 | rs11591147 | 3.7% | rs11206510 | 24.3% | Sanna et al.8 |
Sick sinus syndrome | MYH6 | c.2161C>Ta | 0.38% | rs28730774 | 1% | Holm et al.6 |
Ovarian cancer | BRIP1 | c.2040_2041insTTb | 0.41% | rs34289250 | 0.89% | Rafnar et al.7 |
The following abbreviations are used: GWAS, genome-wide association study; and MAF, minor allele frequency.
RefSeq NM_002471.3; reference genome build 36.
RefSeq NM_032043.2; reference genome build 36.