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Showing all entries with clinican phenotype F-cell numbers (Show All):
IthaID | Common Name | Hb Name | HGVS Name | Genes | Functionality | Phenotype | Locus | Position |
---|---|---|---|---|---|---|---|---|
2127 | -158 C>T (rs7482144, XmnI) | N/A | NG_000007.3:g.42677C>T | Gγ | Modifier | Severity, Hb F levels, Pain, Hb F response to hydroxyurea, F-cell numbers, Anaemia | NG_000007.3 | 42677 |
2073 | rs10184550 | N/A | NG_011968.1:g.56340C>T | BCL11A | Modifier | F-cell numbers, Hb F levels | NG_011968.1 | 56340 |
2074 | rs7606173 | N/A | NG_011968.1:g.60183C>G | BCL11A | Modifier | F-cell numbers, Hb F levels | NG_011968.1 | 60183 |
2075 | rs6706648 | N/A | NG_011968.1:g.63594G>A | BCL11A | Modifier | F-cell numbers, Hb F levels | NG_011968.1 | 63594 |
2066 | rs4671393 | N/A | NG_011968.1:g.64683T>C | BCL11A | Modifier | Acute chest syndrome, F-cell numbers, Hb F levels | NG_011968.1 | 64683 |
2072 | rs766432 | N/A | NG_011968.1:g.65664G>T | BCL11A | Modifier | Hb F response to hydroxyurea, Hb F levels, F-cell numbers, Pain, Response to hydroxyurea | NG_011968.1 | 65664 |
2071 | rs1427407 | N/A | NG_011968.1:g.67591A>C | BCL11A | Modifier | Abnormal platelet count, Hb F levels, Pain, Stroke, Hb F response to hydroxyurea, Vaso-occlusive crisis, Bilirubin levels, F-cell numbers, Abnormal white blood cell count, Reticulocytosis, Reticulocytopenia, Anaemia | NG_011968.1 | 67591 |
2093 | rs6545816 | N/A | NG_011968.1:g.70773T>G | BCL11A | Modifier | Abnormal platelet count, F-cell numbers, Hb F levels | NG_011968.1 | 70773 |
2068 | rs6732518 | N/A | NG_011968.1:g.77037G>A | BCL11A | Modifier | F-cell numbers, Hb F levels | NG_011968.1 | 77037 |
3410 | rs9494142 (rs11154792) | N/A | NC_000006.12:g.135110502T>C | HBS1L-MYB | Modifier | Hb F levels, F-cell numbers | NT_025741.15 | 0 |
2103 | rs6904897 | N/A | NC_000006.12:g.135061842T>G | HBS1L-MYB | Modifier | F-cell numbers | NT_025741.15 | 0 |
3698 | rs16998911 | N/A | NG_016419.1:g.49280T>C | FRMPD4 | Modifier | F-cell numbers, Hb F levels | NG_016419.1 | 49280 |
2114 | IVS XII-9251 G>A (rs12559632) | N/A | NG_007563.1:g.115072G>A | PHEX | Modifier | F-cell numbers | NG_007563.1 | 115072 |
3648 | rs830868 | N/A | NC_000005.10:g.52622080G>T | MFSD4BP1-ITGA1 | Modifier | F-cell numbers | N/A | |
3670 | rs584297 | N/A | NC_000001.11:g.226520780T>C | LOC105373115 | Modifier | F-cell numbers | N/A | |
3669 | rs1442080 | N/A | NC_000018.10:g.53658224G>A | RPL29P32-MBD2 | Modifier | F-cell numbers | N/A | |
3666 | rs2954930 | N/A | NC_000012.12:g.11899768G>A | ETV6-BCL2L14 | Modifier | F-cell numbers | N/A | |
3664 | rs10439027 | N/A | NC_000018.10:g.62620051T>C | ZCCHC2-RN7SL705P | Modifier | F-cell numbers | N/A | |
3662 | rs6891834 | N/A | NC_000005.10:g.171841199C>T | LOC107986476 | Modifier | F-cell numbers | N/A | |
3660 | rs4395533 | N/A | NC_000004.12:g.120560795G>A | SAR1AP3-PRDM5 | Modifier | F-cell numbers | N/A | |
3659 | rs9304395 | N/A | NC_000018.10:g.50309414G>T | CXXC1-RNA5SP458 | Modifier | F-cell numbers | N/A | |
3658 | rs1949857 | N/A | NC_000007.14:g.71006906C>T | AUTS2-GALNT17 | Modifier | F-cell numbers | N/A | |
2116 | rs6630120 | N/A | NC_000023.11:g.25718363A>G | RANBP1P1-MAGEB18 | Modifier | F-cell numbers | N/A | |
3641 | rs1845344 | N/A | NC_000004.12:g.120041230G>T | PDE5A-MAD2L1 | Modifier | F-cell numbers | N/A | |
2886 | rs243027 | N/A | NC_000002.12:g.60379872T>G | MIR4432HG | Modifier | F-cell numbers | N/A | |
2887 | rs243081 | N/A | NC_000002.12:g.60386641G>A | MIR4432HG | Modifier | F-cell numbers | N/A | |
3637 | rs11968814 | N/A | NC_000006.12:g.71067268G>A | B3GAT2-BECN1P2 | Modifier | F-cell numbers | N/A | |
3639 | rs10017284 | N/A | NC_000004.12:g.120592060A>G | SAR1AP3-PRDM5 | Modifier | F-cell numbers | N/A | |
3643 | rs2577720 | N/A | NC_000002.12:g.23325743A>C | LOC107985792-KLHL29 | Modifier | F-cell numbers | N/A | |
3644 | rs17135859 | N/A | NC_000005.10:g.113660957T>C | YTHDC2-KCNN2 | Modifier | F-cell numbers | N/A | |
3645 | rs16914695 | N/A | NC_000009.12:g.29336305A>G | PDK1P1-ME2P1 | Modifier | F-cell numbers | N/A | |
3638 | rs1318772 | N/A | NG_012265.1:g.105961T>C | MCC | Modifier | F-cell numbers | NG_012265.1 | 105961 |
3640 | rs3800569 | N/A | NC_000007.14:g.138726680C>T | ATP6V0A4 | Modifier | F-cell numbers | NG_008145.1 | 76517 |
3642 | rs2279638 | N/A | NC_000001.11:g.220828445G>A | LINC01352 | Modifier | F-cell numbers | NR_110797.1 | |
3646 | rs11071959 | N/A | NG_029143.1:g.228883A>G | MAP2K5 | Modifier | F-cell numbers | NG_029143.1 | 228883 |
3647 | rs3850229 | N/A | NC_000006.12:g.147857222G>A | SAMD5 | Modifier | F-cell numbers | NM_001030060.3 | |
3649 | rs140518 | N/A | NC_000022.11:g.50560753C>T | SYCE3 | Modifier | F-cell numbers | NM_001123225.3 | |
3650 | rs10510789 | N/A | NC_000003.12:g.56843760C>T | ARHGEF3 | Modifier | F-cell numbers | NM_019555.3 | |
3661 | rs7032759 | N/A | NC_000009.12:g.131960810T>C | MED27 | Modifier | F-cell numbers | NM_004269.4 | |
3665 | rs2113120 | N/A | NC_000016.10:g.78654247T>C | WWOX | Modifier | F-cell numbers | NG_011698.1 | 559594 |
3667 | rs757369 | N/A | NC_000014.9:g.68506829A>G | RAD51B | Modifier | F-cell numbers | NG_023267.2 | 692051 |
3668 | rs12412148 | N/A | NG_033998.1:g.90878C>T | SVIL | Modifier | F-cell numbers | NG_033998.1 | 90878 |
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IthaGenes was last updated on 2024-11-08 10:16:16