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Showing all entries involving gene NOS3 (Show All):
| IthaID | Common Name | Hb Name | HGVS Name | Genes | Functionality | Phenotype | Locus | Position |
|---|---|---|---|---|---|---|---|---|
| 2650 | rs2070744 (T786C, -786T>C) | N/A | NG_011992.1:g.6933C>T | NOS3 | Modifier | Acute chest syndrome, Recurrent upper respiratory tract infections, Reticulocytosis, Increased lactate dehydrogenase activity, Delayed menarche, Retinopathy, Bilirubin levels | NG_011992.1 | 6933 |
| 3549 | 27bp-VNTR (eNOS4a/b) | N/A | NG_011992.1:g.11166_11192[4] | NOS3 | Modifier | Abnormal neutrophil cell number, Red blood cell aggregation, Vaso-occlusive crisis, Pulmonary arterial hypertension, Stroke | NG_011992.1 | 11166 |
| 2948 | rs1799983 (G894T) | N/A | NG_011992.1:g.12965T>G | NOS3 | Modifier | Increased lactate dehydrogenase activity, Reticulocytosis, Anaemia, Abnormal haematocrit, Delayed menarche | NG_011992.1 | 12965 |
| 2735 | rs1008140 | N/A | NG_011992.1:g.22464T>C | NOS3 | Modifier | Hb F levels | NG_011992.1 | 22464 |
| 2736 | rs743507 | N/A | NG_011992.1:g.24342C>T | NOS3 | Modifier | Hb F levels | NG_011992.1 | 24342 |
| 2737 | rs1808593 | N/A | NG_011992.1:g.25156G>T | NOS3 | Modifier | Hb F levels | NG_011992.1 | 25156 |
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IthaGenes was last updated on 2024-11-20 13:24:07