Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_012407.4:c.283-176C>T | 77 | 0.224 | ||
NM_012407.4:c.283-59= | 117 | 0.34 | ||
NM_006457.5:c.1141A>G | 169 | 0.488 | ||
NM_006457.5:c.*1006A>G | 177 | 0.523 | ||
NM_006457.5:c.*1054del | 155 | 0.461 | ||
NM_006457.5:c.*1061T>C | 113 | 0.336 | ||
NM_006457.5:c.407C>T | 62 | 0.181 | ||
NM_006457.5:c.1283+412G>A | 175 | 0.512 | ||
NM_001010848.4:c.1986C>T | 139 | 0.406 | ||
NM_001010848.4:c.1829T>G | 7 | 0.021 | ||
NM_018662.3:c.791G>A | 70 | 0.210 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
181500.G.1 | United Arab Emirates | Schizophrenia | 121 patients (71 males, 50 females) diagnosed with Schizophrenia. rs14082 and rs11339365 (PDLIM5 gene) showed significant association only with the paranoid subtype of schizophrenia |