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Showing all entries with clinican phenotype Bilirubin levels (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, Stroke, Hb F response to hydroxyurea, Vaso-occlusive crisis, Bilirubin levels, F-cell numbers, Abnormal platelet count, Abnormal white blood cell count, Reticulocytosis, Reticulocytopenia, Anaemia, Hb F levels | NG_011968.1 | 67591 |
2853 | rs7586110 | N/A | NG_002601.2:g.97138T>G | UGT1A10 | Modifier | Bilirubin levels | NG_002601.2 | 97138 |
2854 | rs10168155 | N/A | NG_002601.2:g.103447C>T | UGT1A10 | Modifier | Gallstones, Bilirubin levels | NG_002601.2 | 103447 |
2855 | rs10168416 | N/A | NG_002601.2:g.103698C>G | UGT1A10 | Modifier | Bilirubin levels, Gallstones | NG_002601.2 | 103698 |
2856 | rs6759892 | N/A | NG_002601.2:g.108280T>G | UGT1A10 | Modifier | Response to deferiprone, Bilirubin levels, Gallstones | NG_002601.2 | 108280 |
2857 | rs1105880 | N/A | NG_002601.2:g.108576A>G | UGT1A10 | Modifier | Gallstones, Bilirubin levels | NG_002601.2 | 108576 |
2858 | rs2070959 | N/A | NG_002601.2:g.108802A>G | UGT1A10, UGT1A6 | Modifier | Bilirubin levels, Gallstones, Response to deferiprone | NG_002601.2 | 108802 |
2859 | rs1105879 | N/A | NG_002601.2:g.108813A>C | UGT1A10 | Modifier | Gallstones, Bilirubin levels | NG_002601.2 | 108813 |
2860 | rs17863787 | N/A | NG_002601.2:g.117705T>G | UGT1A10 | Modifier | Bilirubin levels | NG_002601.2 | 117705 |
2866 | rs3755319 | N/A | NG_002601.2:g.174193A>C | UGT1A10 | Modifier | Gallstones, Bilirubin levels | NG_002601.2 | 174193 |
2852 | rs887829 | N/A | NG_002601.2:g.175181C>T | UGT1A10, UGT1A6 | Modifier | Gallstones, Bilirubin levels | NG_002601.2 | 175181 |
2867 | rs8175347 | N/A | NG_002601.2:g.175492_175493TA[5][6][7][8] | UGT1A1 | Modifier | Anaemia, Hb F levels, Gallstones, Bilirubin levels, Abnormal red blood cell count | NG_002601.2 | 175492 |
2861 | rs6742078 | N/A | NG_002601.2:g.179250G>T | UGT1A10 | Modifier | Bilirubin levels, Gallstones | NG_002601.2 | 179250 |
2862 | rs4148324 | N/A | NG_002601.2:g.179333T>G | UGT1A10 | Modifier | Bilirubin levels, Gallstones | NG_002601.2 | 179333 |
2863 | rs3771341 | N/A | NG_002601.2:g.179850G>A | UGT1A10 | Modifier | Bilirubin levels, Gallstones | NG_002601.2 | 179850 |
2864 | rs4148325 | N/A | NG_002601.2:g.179920C>T | UGT1A10 | Modifier | Bilirubin levels, Gallstones | NG_002601.2 | 179920 |
2865 | rs4148326 | N/A | NG_002601.2:g.180073T>C | UGT1A10 | Modifier | Gallstones, Bilirubin levels | NG_002601.2 | 180073 |
2650 | rs2070744 (T786C, -786T>C) | N/A | NG_011992.1:g.6933C>T | NOS3 | Modifier | Bilirubin levels, Increased lactate dehydrogenase activity, Delayed menarche, Retinopathy, Acute chest syndrome, Reticulocytosis, Recurrent upper respiratory tract infections | NG_011992.1 | 6933 |
2782 | rs7203560 | N/A | NG_029669.1:g.9308A>C | NPRL3 | Modifier | Haemolytic anaemia, Bilirubin levels, Reticulocytopenia | NG_029669.1 | 9308 |
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IthaGenes was last updated on 2024-11-20 13:24:07