Table 1.
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.