TABLE 2.
Parkinson’s disease (PD) patient specific variants of TMEM230.
| Gene | Position (hg19) | Ref | Alt | NM number | AAChange | Consequence | gnomAD_ exome_ EASa |
gnomAD_ genome_ EASa |
ExAC_EASa | CADD | WES cohort |
WGS cohort |
||
| Case (n = 1917) | Control (n = 1652) | Case (n = 1962) | Control (n = 1279) | |||||||||||
| TMEM230 | 20:5081468 | G | A | NM_001009923 | c.521C > T:p.S174F | Missense | – | – | – | 31 | 0 | 0 | 1 | 0 |
| TMEM230 | 20:5081495 | T | C | NM_001009923 | c.494A > G:p.Y165C | Missense | 0.0002 | – | 0.0001 | 21.1 | 0 | 0 | 2 | 0 |
| TMEM230 | 20:5093650 | C | G | NM_001009923 | c.25G > C:p.V9L | Missense | – | – | – | 22.7 | 0 | 0 | 1 | 0 |
aVariants minor allele frequencies from gnomAD_genome_EAS, gnomAD_exome_EAS, and ExAC_EAS. AAChange, amino acid change.