Table 1.
Exome Aggregation Consortium (ExAC) allele frequency comparison of variants detected in at least 3 independent cases and no controls.
| GENE | VARIANT ANNOTATION | CADD | PATHWAY | FREQUENCY IN CASES | FREQUENCY IN EXAC | P |
|---|---|---|---|---|---|---|
|
SLC12A3 rs199974259 |
splice donor | 16.11 | Unknown/other | 4/3378 (0.12%) | 19/66486 (0.03%) | 0.023 |
|
|
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|
HGS rs145607073 |
missense & splice region | 24.8 | Unknown/other | 3/3378 (0.09%) | 84/61604 (0.14%) | 0.630 |
|
|
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|
CFI rs146444258 |
missense | 21.3 | Complement | 3/3378 (0.09%) | 33/66698 (0.05%) | 0.250 |
CADD = Combined Annotation Dependent Depletion