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Showing all entries with clinican phenotype Abnormal red blood cell count (Show All):
IthaID | Common Name | Hb Name | HGVS Name | Genes | Functionality | Phenotype | Locus | Position |
---|---|---|---|---|---|---|---|---|
2792 | rs4910742 | N/A | NG_000007.3:g.12337C>T | βLCR | Modifier | Hb F levels, Abnormal red blood cell count | NG_000007.3 | 12337 |
2096 | rs9399137 | N/A | NC_000006.12:g.135097880T>C | HBS1L-MYB | Modifier | Acute chest syndrome, Hb F levels, Abnormal red blood cell count, Abnormal platelet count, Pain | NT_025741.15 | |
2840 | rs66650371 | N/A | NC_000006.12:g.135097495_135097497delTAC | HBS1L-MYB | Modifier | Anaemia, Abnormal red blood cell count, Abnormal white blood cell count, Abnormal platelet count, Hb F levels | NT_025741.15 | |
2097 | rs7775698 | N/A | NC_000006.12:g.135097497C>T | HBS1L-MYB | Modifier | Abnormal red blood cell count, Hb F levels | NT_025741.15 | 0 |
2867 | rs8175347 | N/A | NG_002601.2:g.175492_175493TA[5][6][7][8] | UGT1A1 | Modifier | Anaemia, Gallstones, Abnormal red blood cell count, Bilirubin levels, Hb F levels | NG_002601.2 | 175492 |
2941 | rs1695 (GSTP1 Ile105Val) | N/A | NG_012075.1:g.6624A>G | GSTP1 | Modifier | Hb F levels, Osteoporosis, Increased Hb A2 levels, Abnormal red blood cell count, Reticulocytopenia | NG_012075.1 | 6624 |
3519 | rs11859733 | N/A | NC_000016.10:g.58297869T>C | PRSS54-RNU6-269P | Modifier | Abnormal red blood cell count | N/A | 0 |
3493 | rs3218108 | N/A | NG_041939.1:g.118978G>A | CCND3 | Modifier | Abnormal red blood cell count | NG_041939.1 | 118978 |
3515 | rs8176743 | N/A | NG_006669.2:g.24188G>A | ABO | Modifier | Abnormal red blood cell count | NG_006669.2 | 24188 |
3516 | rs2218660 | N/A | NC_000002.12:g.46120653T>G | PRKCE | Modifier | Abnormal Hb, Abnormal haematocrit, Abnormal red blood cell count | NM_005400.3 | 0 |
3517 | rs11153167 | N/A | NC_000006.12:g.109301379A>T | CCDC162P | Modifier | Abnormal red blood cell count | NR_152435.1 | 0 |
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IthaGenes was last updated on 2024-11-20 13:24:07