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. 2020 May 30;11(6):609. doi: 10.3390/genes11060609

Table 1.

Details of the top 10 single nucleotide polymorphisms (SNPs) detected in the genome-wide association study (GWAS). p-values were adjusted using the Bonferroni method, accounting for 101,740 independent SNPs.

Refsnp ID CHR BP A1 A2 F_A F_U Depth (SD) Beta p Adj p Ensembl Gene ID Gene Name Consequence Type
rs22669389 18 54992254 T A 0.704 0.333 0.451 ± 0.713 0.406 7.7 × 10−7 0.078 ENSCAFG00000030303; ENSCAFG00000016152 SDHAF2; CPSF7 u, i; u, i
rs22647286 18 54987884 C T 0.704 0.333 3.183 ± 2.875 0.394 1.2 × 10−6 0.124 ENSCAFG00000030303; ENSCAFG00000016152 SDHAF2; CPSF7 u, i; u, i
rs851654341 18 54986491 A G 0.704 0.333 2.324 ± 2.123 0.394 1.2 × 10−6 0.124 ENSCAFG00000030303; ENSCAFG00000016152 SDHAF2; CPSF7 u, i; u, i
rs852097932 18 54986070 A G 0.704 0.337 2.861 ± 2.209 0.394 1.3 × 10−6 0.131 ENSCAFG00000030303; ENSCAFG00000016152 SDHAF2; CPSF7 u, i; u, i
rs22686152 18 54992285 A G 0.704 0.345 0.732 ± 0.940 0.386 2.1 × 10−6 0.213 ENSCAFG00000030303; ENSCAFG00000016152 SDHAF2; CPSF7 u, i; u, i
rs22647289 18 54987464 G T 0.704 0.345 5.423 ± 3.702 0.391 2.1 × 10−6 0.214 ENSCAFG00000030303; ENSCAFG00000016152 SDHAF2; CPSF7 5’ UTR, u; 5’ UTR, u
rs850942449 18 54983627 A G 0.704 0.345 2.831 ± 2.449 0.393 2.2 × 10−6 0.223 ENSCAFG00000030303; ENSCAFG00000016152 SDHAF2; CPSF7 u, i; u, i
- 18 54984004 G A 0.704 0.345 0.887 ± 0.919 0.393 2.2 × 10−6 0.223 ENSCAFG00000030303 SDHAF2 i
rs22647283 18 54987912 C T 0.692 0.326 2.535 ± 2.709 0.390 2.6 × 10−6 0.263 ENSCAFG00000030303; ENSCAFG00000016152 SDHAF2; CPSF7 u, i; u, i
rs850871193 18 54986170 C T 0.692 0.337 3.028 ± 2.646 0.387 4.1 × 10−6 0.413 ENSCAFG00000030303; ENSCAFG00000016152 SDHAF2; CPSF7 u, i; u, i

A1: minor frequency allele referred to the total sample; A2: major frequency allele referred to the total sample; AF: frequency of A1 in affected; UF: frequency of A2 in unaffected; u: upstream; i: intron; 5’ UTR: 5’ untranslated region; SDHAF2: succinate dehydrogenase complex assembly factor 2; CPSF7: Cleavage And Polyadenylation Specific Factor 7.