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. Author manuscript; available in PMC: 2023 Sep 27.
Published in final edited form as: J Hum Genet. 2023 Apr 18;68(8):565–570. doi: 10.1038/s10038-023-01147-z

Table 2.

Top associations between phenotypes and common variants

Phenotypes Genome position (GRCh38) Effect allele (Other allele) Effect allele frequency Effect size [95% CI] P-value Mapped gene Additional independent SNVs (P-value in conditional analysis)
Disease
Atrial Fibrillation chr4:110743002 A (G) 0.15 1.26 [1.18, 1.34] 2.40×10−13 PITX2 No
Type 2 Diabetes chr6:26276061 G (T) 0.04 0.79 [0.73, 0.86] 4.22×10−8 HFE No
chr9:22136441 C (G) 0.25 1.11 [1.07, 1.16] 3.39×10−8 CDKN2B No
chr10:113039134 A (T) 0.25 1.19 [1.15, 1.24] 4.87×10−20 TCF7L2 No
chr12:4275678 G (T) 0.01 0.66 [0.57, 0.77] 4.23×10−8 CCND2 No
chr16:53773852 G (A) 0.46 1.12 [1.08, 1.16] 1.33×10−11 FTO No
Quantitative traits
Low-density lipoprotein chr1:55055522 T (C) 0.10 −0.09 [−0.11, −0.06] 1.71×10−12 PCSK9 No
chr1:109274968 T (G) 0.22 −0.12 [−0.13, −0.10] 3.49×10−38 CELSR2 No
chr2:21040767 G (T) 0.83 0.10 [0.08, 0.12] 1.59×10−21 APOB No
chr2:21072960 A (G) 0.31 0.07 [0.06, 0.09] 7.75×10−20 TDRD15 Yes (6.23×10−13)
chr5:75360714 C (T) 0.38 0.06 [0.04, 0.07] 1.18×10−12 HMGCR No
chr6:160589086 G (A) 0.05 0.12 [0.09, 0.16] 2.94×10−12 LPA No
chr19:11085680 A (AC) 0.11 −0.13 [−0.15, −0.10] 3.73×10−27 LDLR No
chr19:44908684 C (T) 0.14 0.18 [0.16, 0.20] 9.51×10−62 APOE Yes (6.62×10−39)
chr19:44908822 T (C) 0.08 −0.40 [−0.42, −0.37] 2.03×10−181 APOE No
chr19:44935906 G (C) 0.23 −0.03 [−0.05, −0.02] 1.46×10−4 APOC1P1, APOC4 Yes (1.02×10−9)

Common variants: variants with a minor allele frequency (MAF) > 1%. Effect size: Odds Ratios (OR) for binary traits, beta for quantitative traits. CI: confidence interval. Mapped gene: variants were mapped to either the closest or trait-associated genes located within 500kb around the variant. Additional independent SNVs: SNVs that were independently significantly associated with the trait, identified in conditional analyses.