Table 2.
Genes presenting with only one low-frequency functional variant in a multiplex sample set. For these genes, the burden test was not performed, as they only displayed one rare variant with a predicted functional effect.
| Gene | Chr | rs ID | POS (hg19) | REF | ALT | n MS a | n CT a | Effect | Ann Impact b |
AF EUR c |
CADD Phred d |
|---|---|---|---|---|---|---|---|---|---|---|---|
| CCNL2 e | 1 | rs3831366; rs368050244 |
1334052 | CTAGAG | C | 6 f | 5 f | Splice acceptor variant | HIGH | 0.0487 | NA |
| TMX3 | 18 | chr18:66358530 | 66358530 | A | G | 2 | 0 | Splice donor variant | HIGH | −1 | 24.5 |
a For every family, only one subject was considered, independently of their health status. b Predicted impact on protein function. c Allelic frequency on Europeans. e The CCNL2 was observed also in the index family. f The deletion was observed in 12 MS patients belonging to 6 different multiplex families, 5 healthy relatives of the patients, and 5 unrelated healthy subjects. d Phred CADD score.