Table 2 Tunisian high-frequent CNPs affecting OMIM Mendelian disease and phenotype genes and corresponding frequencies.
OMIM phenotype (OMIM ID) | Inheritance | Gene | CNP ID | Position | Length | Type | Location | ACMG class | TN | ASW | LWK | MKK | YRI | CEU | TSI | MEX | CHB | CHD | JPT | GIH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Molybdenum cofactor deficiency B (252160) | AR | MOCS2 | CNP799 | 5:52404519–52409439 | 4920 | DEL | txStart-intron1 | 4 | 0.58 | 0.52 | 0.62 | 0* | 0.38* | 0.41 | 0.11* | 0.3 | 0.15* | 0.33* | 0.35* | 0* |
Resistance to Malaria (611162); Susceptibility to systemic lupus erythematosus (152700) | Unknown; AD | FCGR2B | CNP118 | 1:161511410–161639559 | 128,149 | DUP | txStart-intron1 | 3 | 1 | 1 | 1 | 1 | 1 | 0.99 | 1 | 0* | 0.99 | 1 | 0* | 0* |
Immunodeficiency 20 (615707) | AR | FCGR3A | CNP118 | 1:161511410–161639559 | 128,149 | DUP | txStart-txEnd | 3 | 1 | 1 | 1 | 1 | 1 | 0.99 | 1 | 0* | 0.99 | 1 | 0* | 0* |
Premature ovarian failure 12 (616947); Spermatogenic failure 15 (616950) | AR;AR | SYCE1 | CNP1670 | 10:135328663–135377278 | 48,615 | DUP | intron1-txEnd | 3 | 0.14 | 0.22 | 0.13 | 0.16 | 0.16 | 0.03 | 0.05 | 0.02 | 0.02* | 0.03 | 0.03 | 0* |
Koolen-De Vries syndrome (610443) | AD | KANSL1 | CNP2269 | 17:44165801–44364214 | 198,413 | DUP | txStart-intron4 | 3 | 0.35 | 0.26 | 0.01* | 0.07* | 0* | 0.35 | 0* | 0.34 | 0* | 0.01* | 0.01* | 0* |
Developmental and epileptic encephalopathy 96 (619340) | AD | NSF | CNP2270 | 17:44401067–44752300 | 351,233 | MIX | txStart-intron9 | 3 if duplication and 4 if deletion | 0.89 | 0.71 | 0.67* | 0.85 | 0.70* | 0.74 | 0.68* | 0.75 | 0.84 | 0.85 | 0.83 | 0.85 |
Susceptibility to carbamazepine-induced hypersensitivity syndrome (608579) | Unknown | HLA-A | CNP928 | 6:29837192–29921127 | 83,935 | MIX | txStart-txEnd | 3 if duplication and 5 if deletion | 0.95 | 0* | 0.99 | 0.99 | 0.87 | 0.99 | 0.94 | 1 | 0.91 | 0.95 | 0.98 | 0.94 |
