Gene | SNP ID | Base change | 1000 Genome | ExAC | Protein change | SIFT | POLYPhen | Class | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
AFR | AMR | EAS | EUR | SAS | ||||||||
ETFDH | rs121964954 | 250G > A | 0 | 0 | 0.001 | 0 | 0 | 0.00173 | Ala84Thr | Deleterious | Damaging | Pathogenic |
ETFDH | – | 770A > G | – | – | – | – | – | – | Tyr257Cys | Deleterious | Damaging | VUS |
ACOT11 | rs139751558 | 1042C > T | 0 | 0 | 0.0198 | 0 | 0 | 0.04853 | Arg384Trp | Deleterious | Damaging | VUS |