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Showing all entries with clinican phenotype Vaso-occlusive crisis (Show All):
IthaID | Common Name | Hb Name | HGVS Name | Genes | Functionality | Phenotype | Locus | Position |
---|---|---|---|---|---|---|---|---|
2071 | rs1427407 | N/A | NG_011968.1:g.67591A>C | BCL11A | Modifier | Pain, Hb F levels, Anaemia, Reticulocytopenia, Reticulocytosis, Abnormal white blood cell count, Abnormal platelet count, F-cell numbers, Bilirubin levels, Vaso-occlusive crisis, Hb F response to hydroxyurea, Stroke | NG_011968.1 | 67591 |
2120 | -495 (A>T) (rs2071746) | N/A | NG_023030.1:g.4613A>T | HMOX1 | Modifier | Hb F levels, Stroke, Vaso-occlusive crisis | NG_023030.1 | 4613 |
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 |
2670 | rs5911 (HPA-3) | N/A | NG_008331.1:g.18809T>G | ITGA2B | Modifier | Vaso-occlusive crisis | NG_008331.1 | 18809 |
2671 | rs1801106 (HPA-5) | N/A | NG_008330.1:g.78602G>A | ITGA2 | Modifier | Vaso-occlusive crisis | NG_008330.1 | 78602 |
3113 | rs5370 (5665G>T) | N/A | NG_016196.1:g.10727G>T | EDN1 | Modifier | Pulmonary arterial hypertension, Vaso-occlusive crisis, Acute chest syndrome | NG_016196.1 | 10727 |
3300 | rs6777055 | N/A | NC_000003.12:g.55039890A>C | CACNA2D3 | Modifier | Vaso-occlusive crisis | N/A | |
3304 | rs734784 | N/A | NC_000020.11:g.45094986T>C | KCNS1 | Modifier | Vaso-occlusive crisis | N/A | |
3579 | rs3115229 | N/A | NC_000004.12:g.122088578T>C | TRPC3-KIAA1109 | Modifier | Vaso-occlusive crisis | N/A | |
3144 | rs4652 (+292 ACT>CCT [Thr>Pro]) | N/A | NG_017089.1:g.14102A>C | LGALS3 | Modifier | Recurrent respiratory infections, Vaso-occlusive crisis | NG_017089.1 | 14102 |
3145 | rs1984112 | N/A | NG_008192.1:g.16417A>G | CD36 | Modifier | Reticulocytosis, Vaso-occlusive crisis | NG_008192.1 | 16417 |
3178 | rs2010963 (-634G/C) | N/A | NG_008732.1:g.5398C>G | VEGFA | Modifier | Vaso-occlusive crisis | NG_008732.1 | 5398 |
3179 | rs833068 (G398A) | N/A | NG_008732.1:g.9575G>A | VEGFA | Modifier | Vaso-occlusive crisis | NG_008732.1 | 9575 |
3177 | rs3025020 | N/A | NG_008732.1:g.16158C>T | VEGFA | Modifier | Vaso-occlusive crisis | NG_008732.1 | 16158 |
3303 | rs4274224 | N/A | NG_008841.1:g.31550C>T | DRD2 | Modifier | Vaso-occlusive crisis | NG_008841.1 | 31550 |
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IthaGenes was last updated on 2024-11-20 13:24:07