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. 2012 Sep 7;91(3):422–434. doi: 10.1016/j.ajhg.2012.07.010

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.

a

RefSeq NM_002471.3; reference genome build 36.

b

RefSeq NM_032043.2; reference genome build 36.