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Showing all entries in chromosome 5 (Show All):
IthaID | Common Name | Hb Name | HGVS Name | Genes | Functionality | Phenotype | Locus | Position |
---|---|---|---|---|---|---|---|---|
2629 | rs725937 | N/A | NG_042174.1:g.14905A>G | SPARC | Modifier | Hb F levels | NG_042174.1 | 14905 |
2630 | rs6874468 | N/A | NG_042174.1:g.15921C>T | SPARC | Modifier | Hb F levels | NG_042174.1 | 15921 |
2628 | rs7719521 | N/A | NG_042174.1:g.22212T>G | SPARC | Modifier | Hb F levels | NG_042174.1 | 22212 |
2671 | rs1801106 (HPA-5) | N/A | NG_008330.1:g.78602G>A | ITGA2 | Modifier | Vaso-occlusive crisis | NG_008330.1 | 78602 |
3198 | rs17778257 | N/A | NG_016421.1:g.3422A>T | ADRB2 | Modifier | Pain | NG_016421.1 | 3422 |
3199 | rs12654778 | N/A | NG_016421.1:g.4586G>A | ADRB2 | Modifier | Pain | NG_016421.1 | 4586 |
3200 | rs11168070 | N/A | NG_016421.1:g.4772G>C | ADRB2 | Modifier | Pain | NG_016421.1 | 4772 |
3202 | rs11959427 | N/A | NG_016421.1:g.4873C>T | ADRB2 | Modifier | Pain | NG_016421.1 | 4873 |
3203 | rs1042711 | N/A | NG_016421.1:g.5193C>T | ADRB2 | Modifier | Pain | NG_016421.1 | 5193 |
3204 | rs1801704 | N/A | NG_016421.1:g.5220C>T | ADRB2 | Modifier | Pain | NG_016421.1 | 5220 |
2686 | rs1042713 | N/A | NG_016421.1:g.5285A>G, NG_016421.1:g.5285A= | ADRB2 | Modifier | RBC adhesion, Pain | NG_016421.1 | 5285 |
2659 | rs1042714 (Q27E) | N/A | NG_016421.1:g.5318C>G | ADRB2 | Modifier | Stroke | NG_016421.1 | 5318 |
2661 | rs730012 | N/A | NG_028161.1:g.4653A>C | LTC4S | Modifier | Stroke | NG_028161.1 | 4653 |
2781 | rs25882 | N/A | NG_033024.1:g.6976T>C | CSF2 | Modifier | Stroke | NG_033024.1 | 6976 |
3662 | rs6891834 | N/A | NC_000005.10:g.171841199C>T | LOC107986476 | Modifier | F-cell numbers | N/A | |
3648 | rs830868 | N/A | NC_000005.10:g.52622080G>T | MFSD4BP1-ITGA1 | Modifier | F-cell numbers | N/A | |
3644 | rs17135859 | N/A | NC_000005.10:g.113660957T>C | YTHDC2-KCNN2 | Modifier | F-cell numbers | N/A | |
3209 | rs72765108 | N/A | NG_027822.1:g.11259G>T | AGGF1 | Modifier | Abnormal GFR | NG_027822.1 | 11259 |
3473 | rs10478813 | N/A | NG_008750.1:g.47471C>G | FBN2 | Modifier | Acute chest syndrome | NG_008750.1 | 47471 |
3503 | rs10942625 | N/A | NG_007083.2:g.590532G>A | ADGRV1 | Modifier | Pain | NG_007083.2 | 590532 |
3592 | rs9324918 | N/A | NG_009062.1:g.52918A>G | NR3C1 | Modifier | Pain | NG_009062.1 | 52918 |
3591 | rs2963155 | N/A | NG_009062.1:g.64074T>C | NR3C1 | Modifier | Pain | NG_009062.1 | 64074 |
3590 | rs33389 | N/A | NG_009062.1:g.119579G>A | NR3C1 | Modifier | Pain | NG_009062.1 | 119579 |
3638 | rs1318772 | N/A | NG_012265.1:g.105961T>C | MCC | Modifier | F-cell numbers | NG_012265.1 | 105961 |
3709 | rs75853687 | N/A | NC_000005.10:g.159850278G>A | LINC01847 | Modifier | Red blood cell alloimmunisation | NR_109891.1 | |
3907 | rs1557759 | N/A | NC_000005.10:g.130208414A>G | CHSY3 | Modifier | Stroke | NM_175856.5 | |
4055 | rs258824 | N/A | NC_000005.10:g.143217725C>T | ARHGAP26 | Modifier | Severity | NG_016711.2 |
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IthaGenes was last updated on 2024-12-12 10:33:52