TABLE 6.
Candidate polymorphisms for polyphasia.
| Gene | Amino acid change | Nucleotide change | Chromosome/position | Mutation impact (Medium) | MAF (ExAC) | Linked to human disorders (OMIM, ClinVar, Ensembl) |
| SYT14 | p.Glu270del | N/A | Chr1 210.267.893 | Inframe deletion (AGA/−) | 0.12 | Cerebral atrophy, macrocephaly seizures and developmental delay, spinocerebellar ataxia with psychomotor retardation |
| NLRP13 | N/A | c.2109G > C | Chr19 56.426.074 | Splice region | 0.44 | Ductal breast carcinoma, immune response to smallpox, long QT syndrome, exploratory eye movement dysfunction in schizophrenia |
| SLCO4C1 | N/A | c.1878G > A | Chr5 101.575.091 | Splice region | 0.33 | Hereditary cancer-predisposing syndrome, Type 2 diabetes, obesity |
| CCDC90B | p.Arg127Gln† | c.380C > T | Chr11 82.973.004 | Missense | 0.42 | Intellectual disability, autism |
| PARP4 | c.3794C > G | p.Gly1265Ala | Chr13 25.009.485 | Missense | 0.39 | Cancer, sudden cardiac arrest, obesity, intracranial hypertension |
| SPDYE1 | c.833T > C | p.Cys278Arg | Chr7 44.047.066 | Missense | 0.42 | Williams-Beuren Syndrome |