Table 3.
Rare NeuroX pathogenic variants or of pathogenic nature unclear that are present in at least one case subject.
| Fisher’s Exact Test a | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Gene | Amino acid change | dbSNP variant ID | NeuroX variant name | Minor allele count - Cases | Major allele count - Cases | Minor allele count - Controls (EVS) | Major allele count - Controls (EVS) | P | OR | LCI | UCI |
| PSEN2 | Ser130Leu | rs63750197 | exm153953 | 1 | 247 | 9 | 8591 | 0.248 | 3.86 | 0.09 | 28.04 |
| TREM2 | Arg47His | rs75932628 | exm545529 | 1 | 247 | 22 | 8578 | 0.480 | 1.58 | 0.04 | 9.84 |
Pathogenic variants or variants of “pathogenic nature unclear” (according to the AD&FTDMDB) that were present in at least one case subject are listed along with the results from a aFisher’s exact test comparing allele frequencies in the 124 PCA cases versus the frequency in 4,300 European Americans, according to the Exome Variant Server (EVS). P, Fisher’s exact p-value; OR, odds ratio; LCI, lower 95% confidence interval; UCI, upper 95% confidence interval.