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Showing all entries in locus NG_011485.1 (Show All):
IthaID | Common Name | Hb Name | HGVS Name | Genes | Functionality | Phenotype | Locus | Position |
---|---|---|---|---|---|---|---|---|
2774 | rs398655 | N/A | NG_011485.1:g.2082A>C | KL | Modifier | Hb F levels | NG_011485.1 | 2082 |
2589 | rs576404 | N/A | NG_011485.1:g.7530C>A | KL | Modifier | Osteonecrosis/Avascular necrosis | NG_011485.1 | 7530 |
2588 | rs499091 | N/A | NG_011485.1:g.8586A>G | KL | Modifier | Osteonecrosis/Avascular necrosis | NG_011485.1 | 8586 |
2587 | rs2238166 | N/A | NG_011485.1:g.9111C>T | KL | Modifier | Osteonecrosis/Avascular necrosis | NG_011485.1 | 9111 |
2586 | rs211234 | N/A | NG_011485.1:g.9558G>A | KL | Modifier | Osteonecrosis/Avascular necrosis | NG_011485.1 | 9558 |
2578 | rs211235 | N/A | NG_011485.1:g.9630T>G | KL | Modifier | Osteonecrosis/Avascular necrosis | NG_011485.1 | 9630 |
2585 | rs211239 | N/A | NG_011485.1:g.10619A>G | KL | Modifier | Osteonecrosis/Avascular necrosis, Priapism | NG_011485.1 | 10619 |
2584 | rs565587 | N/A | NG_011485.1:g.14089A>G | KL | Modifier | Osteonecrosis/Avascular necrosis | NG_011485.1 | 14089 |
2583 | rs516306 | N/A | NG_011485.1:g.14707T>C | KL | Modifier | Leg ulcers, Osteonecrosis/Avascular necrosis | NG_011485.1 | 14707 |
2577 | rs480780 | N/A | NG_011485.1:g.21749G>T | KL | Modifier | Osteonecrosis/Avascular necrosis | NG_011485.1 | 21749 |
2747 | rs577912 | N/A | NG_011485.1:g.24581T>G | KL | Modifier | Hb F levels | NG_011485.1 | 24581 |
2748 | rs7982726 | N/A | NG_011485.1:g.25141T>C | KL | Modifier | Hb F levels | NG_011485.1 | 25141 |
2581 | rs685417 | N/A | NG_011485.1:g.27562G>A | KL | Modifier | Leg ulcers, Hb F levels, Osteonecrosis/Avascular necrosis | NG_011485.1 | 27562 |
3543 | rs656525 | N/A | NG_011485.1:g.37107A>C | KL | Modifier | Acute chest syndrome | NG_011485.1 | 37107 |
3330 | rs1888057 | N/A | NG_011485.1:g.37125C>T | KL | Modifier | Pulmonary arterial hypertension | NG_011485.1 | 37125 |
2647 | rs2249358 | N/A | NG_011485.1:g.37594G>A | KL | Modifier | Priapism | NG_011485.1 | 37594 |
2749 | rs9527025 | N/A | NG_011485.1:g.42623G>C | KL | Modifier | Hb F levels | NG_011485.1 | 42623 |
2580 | rs2149860 | N/A | NG_011485.1:g.43419A>G | KL | Modifier | Leg ulcers, Osteonecrosis/Avascular necrosis | NG_011485.1 | 43419 |
2750 | rs648202 | N/A | NG_011485.1:g.49893T>C | KL | Modifier | Hb F levels | NG_011485.1 | 49893 |
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IthaGenes was last updated on 2024-11-20 13:24:07