The Study Findings table contains information on the genetic findings of a particular NESHIE or CP genetic study. Variants with statistically-significant associations with NESHIE or CP have p-values < 0.05. Odds ratio values quantify the strength of association of a variant allele with NESHIE or CP.
Paper: Moreno-De-Luca et al., 2021
Study population description: American; Two cohorts: clinical laboratory referral cohort: 1345 CP patient (1009 parent-offspring trios) and health care-based cohort: 1181 CP patients (no parental samples)
Regional classification: America
Sequencing or genotyping methods: Whole exome sequencing to identify genetic variants present in two cohorts.
| Variant | Reported allele or genotype | Condition | Condition description | Disease status | Odds ratio | P value |
|---|---|---|---|---|---|---|
| NM_00307:c.110G>A | None | CP | None | Not determined | None | None |
| rs201431517 | A allele | CP | None | Not determined | None | None |
| rs267608395 | T allele | CP | None | Not determined | None | None |
| NM_016032.4:c.777+1G>A | T allele | CP | None | Not determined | None | None |
| NM_015570:c.1297_1300CCT | None | CP | None | Not determined | None | None |
| rs797045164 | A allele | CP | None | Not determined | None | None |
| rs672601370 | A allele | CP | None | Not determined | None | None |
| rs1553639011 | G allele | CP | None | Not determined | None | None |
| NM_017934.7:c.3782+2AAGT>- | None | CP | None | Not determined | None | None |
| NM_020988:c.470T>C | C allele | CP | None | Not determined | None | None |
| NM_020988:c.736G>A | A allele | CP | None | Not determined | None | None |
| NM_020988:c.626G>A | A allele | CP | None | Not determined | None | None |
| NM_020988:c.724-8G>A | A allele | CP | None | Not determined | None | None |
| NM_020988:c.736G>A | A allele | CP | None | Not determined | None | None |
| NM_020988:c.625C>T | T allele | CP | None | Not determined | None | None |
| NM_001165963:c.4547C>A | T allele | CP | None | Not determined | None | None |
| NM_001165963:c.2628A>T | A allele | CP | None | Not determined | None | None |
| NM_001165963:c.4172A>G | C allele | CP | None | Not determined | None | None |
| NM_00307:c.110G>A | None | CP | None | Not determined | None | None |
| NM_001165963:c.4441G>A | T allele | CP | None | Not determined | None | None |
| NM_001845:c.2373_2383del | - | CP | None | Not determined | None | None |
| NM_001845:c.3371G>A | T allele | CP | None | Not determined | None | None |
| NM_001845:c.2086G>A | T allele | CP | None | Not determined | None | None |
| NM_001845:c.3977G>T | A allele | CP | None | Not determined | None | None |
| NM_001845:c.3611G>A | T allele | CP | None | Not determined | None | None |
| NM_001845:c.3497G>A | T allele | CP | None | Not determined | None | None |
| NM_001845:c.3715G>A | T allele | CP | None | Not determined | None | None |
| NM_020988:c.724-8G>A | A allele | CP | None | Not determined | None | None |
| NM_017934.7:c.600+1G>- | None | CP | None | Not determined | None | None |
| rs1554480537 | T allele | CP | None | Not determined | None | None |
| rs1064793161 | T allele | CP | None | Not determined | None | None |
| rs876661202 | C allele | CP | None | Not determined | None | None |
| rs1553639041 | T allele | CP | None | Not determined | None | None |
| rs1553638614 | T allele | CP | None | Not determined | None | None |
| rs879253888 | A allele | CP | None | Not determined | None | None |
| rs397507520 | C allele | CP | None | Not determined | None | None |
| NM_002834.5:c.1387A>G | G allele | CP | None | Not determined | None | None |