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Showing all entries with clinican phenotype Hb F levels (Show All):
IthaID | Common Name | Hb Name | HGVS Name | Genes | Functionality | Phenotype | Locus | Position |
---|---|---|---|---|---|---|---|---|
3435 | Gγ-Atlanta HPFH (Atlanta type of HPFH, Atlanta non-deletional HPFH) | N/A | N/A | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | |
3436 | Yugoslavian non-deletional HPFH | N/A | N/A | Aγ, Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | |
3881 | rs3759071 | N/A | NC_000011.10:g.5270302G>A | NC_000011.10:g.5270302G>T | ε | Modifier | Hb F levels | NG_000007.3 | |
3882 | rs3813726 | N/A | NC_000011.10:g.5234759T>A | NC_000011.10:g.5234759T>C | δ | Modifier | Hb F levels | NG_000007.3 | |
1502 | Italian 1 (HPFH-4) | N/A | N/A | δ, β | Causative | HPFH, Hb F levels | NG_000007.3 | 0 |
1503 | Italian 2, Sicilian (HPFH-5) | N/A | NC_000011.10:g.59893_72818del | δ, β | Causative | HPFH, Hb F levels | NG_000007.3 | 0 |
1517 | Thai 11.3 (δβ)0 | N/A | NG_000007.3:g.60045_71313delinsTACATTAAGAGATACCTTAATG | δ, β | Causative | δβ-thalassaemia, Hb F levels | NG_000007.3 | 0 |
2497 | 49.98 kb (δβ)0 Indian del (HPFH-9) | N/A | NC_000011.10:g.5194285_5244267del | δ, β, pseudo β | Causative | HPFH, Hb F levels | NG_000007.3 | 0 |
2498 | 86.7 kb (Αγδβ)0 Indian del (HPFH-10) | N/A | NC_000011.10:g.5164124_5250830delinsTG | Aγ, δ, β, pseudo β | Causative | HPFH, Hb F levels | NG_000007.3 | 0 |
3107 | rs4601817 | N/A | NG_000007.3:g.6445T>C | βLCR | Modifier | Hb F levels, Severity | NG_000007.3 | 6445 |
2812 | rs11036639 | N/A | NG_000007.3:g.8340T>G | βLCR | Modifier | Hb F levels, Severity | NG_000007.3 | 8340 |
2950 | rs16912979 | N/A | NG_000007.3:g.9151A>G | βLCR | Modifier | Hb F levels | NG_000007.3 | 9151 |
3106 | rs11036634 | N/A | NG_000007.3:g.10118G>A | βLCR | Modifier | Hb F levels, Severity | NG_000007.3 | 10118 |
2792 | rs4910742 | N/A | NG_000007.3:g.12337C>T | βLCR | Modifier | Hb F levels, Abnormal red blood cell count | NG_000007.3 | 12337 |
3260 | rs7119428 | N/A | NG_000007.3:g.16766T>G | βLCR | Modifier | Hb F levels | NG_000007.3 | 16766 |
3261 | rs9736333 | N/A | NG_000007.3:g.16784A>G | βLCR | Modifier | Hb F levels | NG_000007.3 | 16784 |
2718 | rs7130110 | N/A | NG_000007.3:g.22742C>G | ε | Modifier | Hb F levels, Hb F response to hydroxyurea | NG_000007.3 | 22742 |
2813 | rs11036562 | N/A | NG_000007.3:g.24701G>T | ε | Modifier | Hb F levels, Severity | NG_000007.3 | 24701 |
2727 | rs3759070 | N/A | NG_000007.3:g.27218G>C | ε | Modifier | Hb F levels, Severity | NG_000007.3 | 27218 |
3185 | rs67385638 | N/A | NG_000007.3:g.28476G>C | ε | Modifier | Hb F levels | NG_000007.3 | 28476 |
3880 | rs72872549 | N/A | NC_000011.10:g.5268823C>T | ε | Modifier | Hb F levels | NG_000007.3 | 28793 |
2824 | rs4910740 | N/A | NG_000007.3:g.31556C>T | HBG2-HBE1 | Modifier | Hb F levels, Severity | NG_000007.3 | 31556 |
2814 | rs10837707 | N/A | NG_000007.3:g.32038A>G | HBG2-HBE1 | Modifier | Hb F levels, Severity | NG_000007.3 | 32038 |
3417 | rs4348933 (rs11036509) | N/A | NG_000007.3:g.33868T>C | NG_000007.3:g.33868T>G | HBG2-HBE1 | Modifier | Hb F levels | NG_000007.3 | 33868 |
2825 | rs10128653 | N/A | NG_000007.3:g.41385T>G | Gγ | Modifier | Hb F levels | NG_000007.3 | 41385 |
3411 | rs2855121 | N/A | NG_000007.3:g.41555G>A | Gγ | Modifier | Hb F levels, Severity | NG_000007.3 | 41555 |
2826 | rs2855122 | N/A | NG_000007.3:g.41610G>A | Gγ | Modifier | Hb F levels | NG_000007.3 | 41610 |
2874 | rs2855123 | N/A | NG_000007.3:g.41768T>A | Gγ | Modifier | Hb F levels, Severity | NG_000007.3 | 41768 |
1554 | -567 T>G (Iranian non-deletional HPFH) | N/A | HBG2:c.-620T>G | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42268 |
3272 | -533 (-ATAAG) | N/A | HBG2:c.-533_-529delATAAG | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42302 |
1555 | -202 C>G (Black non-deletional HPFH) | N/A | HBG2:c.-255C>G | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42633 |
1556 | -200 +C (Tunisian non-deletional HPFH) | N/A | HBG2:c.-253dup | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42635 |
2300 | -197 C>T | N/A | HBG2:c.-250c>T | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42638 |
1557 | -196 C>T (Greek non-deletional HPFH) | N/A | HBG2:c.-249C>T | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42639 |
1558 | -175 T>C (Black/Sardinian/British non-deletional HPFH) | N/A | HBG2:c.-228T>C | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42660 |
2127 | -158 C>T (XmnI, rs7482144) | N/A | NG_000007.3:g.42677C>T | Gγ | Modifier | Hb F levels, Pain, Hb F response to hydroxyurea, F-cell numbers, Anaemia, Severity | NG_000007.3 | 42677 |
1559 | -114 C>G (Australian non-deletional HPFH) | N/A | HBG2:c.-167C>G | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42721 |
1560 | -114 C>A (Algerian non-deletional HPFH) | N/A | HBG2:c.-167C>A | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42721 |
1561 | -114 C>T (Japanese non-deletional HPFH) | N/A | HBG2:c.-167C>T | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42721 |
1562 | -110 A>C (Czech non-deletional HPFH) | N/A | HBG2:c.-163A>C | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42725 |
1563 | -109 G>T (Greek non-deletional HPFH) | N/A | HBG2:c.-162A>C | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42726 |
1564 | -37 A>T (Belgian non-deletional HPFH) | N/A | HBG2:c.-90A>T | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42798 |
3162 | rs1894397 | N/A | NG_000007.3:g.42859G>A | Gγ | Modifier | Hb F levels | NG_000007.3 | 42859 |
2427 | CD 41 TTC>CTC [Phe>Leu] | Hb F-Avellino | HBG2:c.124T>C | Gγ | Causative | γ-chain variant, Hb F levels | NG_000007.3 | 43133 |
3161 | rs11036475 | N/A | NG_000007.3:g.43606C>T | Gγ | Modifier | Hb F levels | NG_000007.3 | 43606 |
3160 | rs11036474 | N/A | NG_000007.3:g.43668A>G | Gγ | Modifier | Hb F levels | NG_000007.3 | 43668 |
2804 | rs2070972 | N/A | NG_000007.3:g.44129T>G | Gγ | Modifier | Hb F levels, Severity | NG_000007.3 | 44129 |
2803 | rs2855125 | N/A | NG_000007.3:g.45159A>C | HBG1-HBG2 | Modifier | Hb F levels, Severity | NG_000007.3 | 45159 |
3105 | rs2255519 | N/A | NG_000007.3:g.45305C>T | Gγ | Modifier | Hb F levels | NG_000007.3 | 45305 |
1504 | SE Asian, Thai (Aγδβ)0 (HPFH-6) | N/A | NC_000011.10:g.5172745_5252029 | Aγ, δ, β, pseudo β, OR51V1, OR52Z1-OR51V1 | Causative | δβ-thalassaemia, Hb F levels | NG_000007.3 | 45587 |
2802 | rs2855126 | N/A | NG_000007.3:g.45699G>C | HBG1-HBG2 | Modifier | Hb F levels, Hyperuricemia, Severity | NG_000007.3 | 45699 |
2801 | rs2855038 | N/A | NG_000007.3:g.46692A>G | Aγ | Modifier | Hb F levels, Severity | NG_000007.3 | 46692 |
3104 | rs2855039 | N/A | NG_000007.3:g.47175G>A | Aγ | Modifier | Hb F levels | NG_000007.3 | 47175 |
3920 | -368 C>A | N/A | HBG1:c.-420C>A | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47391 |
1565 | -211 C>T (Venezuelan non-deletional HPFH) | N/A | HBG1:c.-264C>T | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47548 |
1566 | -202 C>T (Black non-deletional HPFH) | N/A | HBG1:c.-255C>T | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47557 |
1567 | -201 C>T (Greek non-deletional HPFH) | N/A | HBG1:c.-254C>T | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47558 |
1568 | -198 T>C (British non-deletional HPFH) | N/A | HBG1:c.-251T>C | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47561 |
2301 | -197 C>T | N/A | HBG1:c.-250C>T | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47562 |
1569 | -196 C>T (Italian/Chinese non-deletional HPFH) | N/A | HBG1:c.-249C>T | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47563 |
1570 | -195 C>G (Brazilian non-deletional HPFH) | N/A | HBG1:c.-248C>G | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47564 |
1571 | -175 T>C (Black non-deletional HPFH) | N/A | HBG1:c.-228T>C | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47584 |
1572 | -158 C>T (Cretan non-deletional HPFH) | N/A | HBG1:c.-211C>T | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47601 |
1573 | -117 G>A (Greek/Italian/Black non-deletional HPFH) | N/A | HBG1:c.-170G>A | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47642 |
1574 | -114 to -102 (13 bp deletion , Black non-deletional HPFH) | N/A | HBG1:c.-167_-155delCAATAGCCTTGAC | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47645 |
1575 | -114 C>T (Georgian non-deletional HPFH) | N/A | HBG1:c.-167C>T | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47645 |
3025 | -114 C>G (African-American/Hispanic non-deletional HPFH) | N/A | HBG1:c.-167C>G | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47645 |
2302 | -113 A>G | N/A | HBG1:c.-166A>G | Aγ | Causative | HPFH, Hb F levels | NG_000007.3 | 47646 |
2945 | rs368698783 (Aγ(+25 G>A)) | N/A | NG_000007.3:g.47783G>A | Aγ | Modifier | Hb F levels | NG_000007.3 | 47783 |
1498 | (HPFH-7, Kenya) | Hb Kenya | NG_000007.3:g.48194_70985del | Aγ, δ, β, pseudo β | Causative | β-chain variant, Hb F levels | NG_000007.3 | 48194 |
3158 | rs11036455 | N/A | NG_000007.3:g.48428T>C | Aγ | Modifier | Hb F levels | NG_000007.3 | 48428 |
3159 | rs201642811 | N/A | NG_000007.3:g.49274T>G | Aγ | Modifier | Hb F levels | NG_000007.3 | 49274 |
2800 | rs916111 | N/A | NG_000007.3:g.49503A>T | Aγ | Modifier | Hb F levels, Severity | NG_000007.3 | 49503 |
3103 | rs10488676 | N/A | NG_000007.3:g.50049C>T | Aγ | Modifier | Hb F levels | NG_000007.3 | 50049 |
3845 | rs7924684 | N/A | NG_000007.3:g.52118G>A | BGLT3 | Modifier | Hb F levels | NG_000007.3 | 52118 |
1501 | Indian HPFH-3 | N/A | NC_000011.10:g.5194459_5244226del | δ, β, pseudo β | Causative | HPFH, Hb F levels | NG_000007.3 | 53390 |
2815 | rs2071348 | N/A | NG_000007.3:g.54700A>C | pseudo β | Modifier | Hb F levels, Severity | NG_000007.3 | 54700 |
1500 | Ghanaian (HPFH-2) | N/A | NC_000011.10:g.5158438_5242749del | δ, β, pseudo β | Causative | HPFH, Hb F levels | NG_000007.3 | 54867 |
2827 | rs16912210 | N/A | NG_000007.3:g.54993T>C | pseudo β | Modifier | Hb F levels | NG_000007.3 | 54993 |
2128 | rs10128556 | N/A | NG_000007.3:g.55163G>A | pseudo β | Modifier | HPFH, Hb F levels, Severity | NG_000007.3 | 55163 |
2156 | Algerian HPFH deletion | N/A | NG_000007.3:g.57141_81002del; 81008delA | δ, β | Causative | HPFH, Hb F levels | NG_000007.3 | 57141, 81008 |
2155 | French West-Indies deletion/insertion (French West-Indies HPFH deletion) | N/A | NG_000007.3:g.57155_80887delinsCAGCAGGAAAGTGAGAAG | δ, β | Causative | HPFH, Hb F levels | NG_000007.3 | 57155 |
2870 | rs968856 | N/A | NG_000007.3:g.58270A>G | HBD-HBBP1 | Modifier | Hb F levels | NG_000007.3 | 58270 |
2811 | rs2105819 | N/A | NG_000007.3:g.59119C>G | HBD-HBBP1 | Modifier | Hb F levels, Severity | NG_000007.3 | 59119 |
1499 | Black (HPFH-1) | N/A | NC_000011.10:g.5153222_5238138delinsAAATA | δ, β | Causative | HPFH, Hb F levels | NG_000007.3 | 59478 |
2828 | rs4910736 | N/A | NG_000007.3:g.59857G>T | HBD-HBBP1 | Modifier | Hb F levels | NG_000007.3 | 59857 |
2810 | rs4910543 | N/A | NG_000007.3:g.60019C>G | HBD-HBBP1 | Modifier | Hb F levels, Severity | NG_000007.3 | 60019 |
2809 | rs4402323 | N/A | NG_000007.3:g.60254G>A | HBD-HBBP1 | Modifier | Hb F levels, Severity | NG_000007.3 | 60254 |
2871 | rs4283007 | N/A | NG_000007.3:g.60356T>A | HBD-HBBP1 | Modifier | Hb F levels | NG_000007.3 | 60356 |
2808 | rs4320977 | N/A | NG_000007.3:g.60684T>C | HBD-HBBP1 | Modifier | Hb F levels, Severity | NG_000007.3 | 60684 |
2807 | rs10837643 | N/A | NG_000007.3:g.60808A>T | HBD-HBBP1 | Modifier | Hb F levels, Severity | NG_000007.3 | 60808 |
2806 | rs3759074 | N/A | NG_000007.3:g.61068C>T | δ | Modifier | Hb F levels, Severity | NG_000007.3 | 61068 |
2154 | French deletion/insertion (French HPFH deletion) | N/A | NG_000007.3:g.[61399_61400insC; 61402_81144del] | δ, β | Causative | HPFH, Hb F levels | NG_000007.3 | 61402 |
2799 | rs3813727 | N/A | NG_000007.3:g.62934T>C | δ | Modifier | Hb F levels, Severity | NG_000007.3 | 62934 |
2872 | rs6578588 | N/A | NG_000007.3:g.66595A>G | HBB-HBD | Modifier | Hb F levels, Severity | NG_000007.3 | 66595 |
2124 | Caucasian HPFH (27825 bp deletion) | N/A | NC_000011.10:g.5201455_5229279delins5223936_5223960 | β | Causative | β-thalassaemia, Hb F levels | NG_000007.3 | 68337 |
1505 | South East Asian (SEA) deletion (Vietnamese, SE Asian, HPFH-7, SEA-HPFH, 27 kb deletion) | N/A | NC_000011.10:g.5201647_5229059del | β | Causative | β-thalassaemia, Hb F levels | NG_000007.3 | 68557 |
3189 | rs7936823 | N/A | NG_000007.3:g.68678C>T | β | Modifier | Hb F levels, Anaemia, Severity | NG_000007.3 | 68678 |
2869 | rs1003586 | N/A | NG_000007.3:g.69476G>A | β | Modifier | Hb F levels | NG_000007.3 | 69476 |
2816 | rs10837631 | N/A | NG_000007.3:g.72490A>T | β | Modifier | Hb F levels | NG_000007.3 | 72490 |
3872 | rs886037864 | N/A | NC_000002.12:g.60546217T>G | BCL11A | Modifier | Hb F levels | NG_011968.1 | 12282 |
3873 | rs886037865 | N/A | NC_000002.12:g.60546213C>A | BCL11A | Modifier | Hb F levels | NG_011968.1 | 12286 |
3874 | rs886037866 | N/A | NC_000002.12:g.60546158G>T | BCL11A | Modifier | Hb F levels | NG_011968.1 | 12341 |
3418 | rs189984760 | N/A | NG_011968.1:g.47126T>C | BCL11A | Modifier | Hb F levels | NG_011968.1 | 47126 |
3163 | rs117674195 | N/A | NG_011968.1:g.55290C>T | BCL11A | Modifier | Hb F levels | NG_011968.1 | 55290 |
2073 | rs10184550 | N/A | NG_011968.1:g.56340C>T | BCL11A | Modifier | Hb F levels, F-cell numbers | NG_011968.1 | 56340 |
2823 | rs6709302 | N/A | NG_011968.1:g.58005C>T | BCL11A | Modifier | Hb F levels | NG_011968.1 | 58005 |
2074 | rs7606173 | N/A | NG_011968.1:g.60183C>G | BCL11A | Modifier | Hb F levels, F-cell numbers | NG_011968.1 | 60183 |
3218 | rs1896296 | N/A | NG_011968.1:g.61547C>A | BCL11A | Modifier | Hb F levels | NG_011968.1 | 61547 |
2817 | rs1896295 | N/A | NG_011968.1:g.61548A>G | BCL11A | Modifier | Hb F levels | NG_011968.1 | 61548 |
3102 | rs6729815 | N/A | NG_011968.1:g.61962A>G | BCL11A | Modifier | Hb F levels | NG_011968.1 | 61962 |
2819 | rs45606437 | N/A | NG_011968.1:g.62525delG | BCL11A | Modifier | Hb F levels | NG_011968.1 | 62525 |
2818 | rs6738440 | N/A | NG_011968.1:g.63393T>C | BCL11A | Modifier | Hb F levels | NG_011968.1 | 63393 |
2075 | rs6706648 | N/A | NG_011968.1:g.63594G>A | BCL11A | Modifier | Hb F levels, F-cell numbers | NG_011968.1 | 63594 |
2067 | rs7557939 | N/A | NG_011968.1:g.64287C>T | BCL11A | Modifier | Hb F levels, Pain, Anaemia | NG_011968.1 | 64287 |
2820 | rs7584113 | N/A | NG_011968.1:g.64323T>C | BCL11A | Modifier | Hb F levels | NG_011968.1 | 64323 |
2066 | rs4671393 | N/A | NG_011968.1:g.64683T>C | BCL11A | Modifier | Hb F levels, Acute chest syndrome, F-cell numbers | NG_011968.1 | 64683 |
2793 | rs10172646 | N/A | NG_011968.1:g.64877C>T | BCL11A | Modifier | Hb F levels | NG_011968.1 | 64877 |
2821 | rs10195871 | N/A | NG_011968.1:g.65045T>C | BCL11A | Modifier | Hb F levels | NG_011968.1 | 65045 |
2065 | rs11886868 | N/A | NG_011968.1:g.65388G>A | BCL11A | Modifier | Hb F levels, Pain, Anaemia | NG_011968.1 | 65388 |
2072 | rs766432 | N/A | NG_011968.1:g.65664G>T | BCL11A | Modifier | Hb F levels, Pain, Hb F response to hydroxyurea, F-cell numbers, Response to hydroxyurea | NG_011968.1 | 65664 |
3412 | rs766431 | N/A | NG_011968.1:g.65716T>C | BCL11A | Modifier | Hb F levels | NG_011968.1 | 65716 |
2822 | rs1896294 | N/A | NG_011968.1:g.66560G>A | BCL11A | Modifier | Hb F levels | NG_011968.1 | 66560 |
2070 | rs7599488 | N/A | NG_011968.1:g.67287G>A | BCL11A | Modifier | Hb F levels, Hb F response to hydroxyurea | NG_011968.1 | 67287 |
2071 | rs1427407 | N/A | NG_011968.1:g.67591A>C | BCL11A | Modifier | Hb F levels, 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 | NG_011968.1 | 67591 |
3101 | rs6545817 | N/A | NG_011968.1:g.70455G>A | BCL11A | Modifier | Hb F levels | NG_011968.1 | 70455 |
2093 | rs6545816 | N/A | NG_011968.1:g.70773T>G | BCL11A | Modifier | Hb F levels, F-cell numbers, Abnormal platelet count | NG_011968.1 | 70773 |
3183 | rs13019832 | N/A | NG_011968.1:g.75063C>T | BCL11A | Modifier | Hb F levels | NG_011968.1 | 75063 |
2068 | rs6732518 | N/A | NG_011968.1:g.77037G>A | BCL11A | Modifier | Hb F levels, F-cell numbers | NG_011968.1 | 77037 |
2794 | rs7579014 | N/A | NG_011968.1:g.77740C>T | BCL11A | Modifier | Hb F levels | NG_011968.1 | 77740 |
3165 | rs7593947 | N/A | NG_011968.1:g.80701T>A | BCL11A | Modifier | Hb F levels | NG_011968.1 | 80701 |
3164 | rs7581162 | N/A | NG_011968.1:g.81150A>T | BCL11A | Modifier | Hb F levels | NG_011968.1 | 81150 |
3416 | rs12477097 | N/A | NG_011968.1:g.87237T>G | BCL11A | Modifier | Hb F levels | NG_011968.1 | 87237 |
3859 | rs7569946 | N/A | NC_000002.12:g.60460824A>G | BCL11A | Modifier | Hb F levels | NG_011968.1 | 97675 |
2795 | rs17331129 | N/A | NG_011968.1:g.105692A>G | BCL11A | Modifier | Hb F levels | NG_011968.1 | 105692 |
2096 | rs9399137 | N/A | NC_000006.12:g.135097880T>C | HBS1L-MYB | Modifier | Hb F levels, Acute chest syndrome, Pain, Abnormal platelet count, Abnormal red blood cell count | NT_025741.15 | |
2099 | rs4895441 | N/A | NC_000006.12:g.135105435A>G | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | |
2101 | rs9402686 | N/A | NC_000006.12:g.135106679G>A | HBS1L-MYB | Modifier | Hb F levels, Acute chest syndrome | NT_025741.15 | |
2104 | rs35959442 | N/A | NC_000006.12:g.135103041C>G | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | |
2840 | rs66650371 | N/A | NC_000006.12:g.135097495_135097497delTAC | HBS1L-MYB | Modifier | Hb F levels, Abnormal platelet count, Abnormal white blood cell count, Abnormal red blood cell count, Anaemia | NT_025741.15 | |
2841 | rs35786788 | N/A | NC_000006.12:g.135097904G>A | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | |
2842 | rs9494145 | N/A | NC_000006.12:g.135111414T>C | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | |
3331 | rs1547247 | N/A | NC_000006.11:g.135390836G>A | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | |
3857 | rs13220662 | N/A | NC_000006.12:g.135074410G>A | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | |
3911 | rs796512567 | N/A | NC_000006.12:g.135097900_135097901delinsA | HBS1L-MYB | Modifier | Hb F levels, Acute chest syndrome | NT_025741.15 | |
2097 | rs7775698 | N/A | NC_000006.12:g.135097497C>T | HBS1L-MYB | Modifier | Hb F levels, Abnormal red blood cell count | NT_025741.15 | 0 |
2098 | rs9389268 | N/A | NC_000006.12:g.135098493A>G | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
2100 | rs6929404 | N/A | NC_000006.12:g.135132889C>A | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
2102 | rs1320963 | N/A | NC_000006.12:g.135122074A>G | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
2105 | rs9376090 | N/A | NC_000006.12:g.135090090T>C | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
2106 | rs4895440 | N/A | NC_000006.12:g.135105420A>T | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
2109 | rs9402685 | N/A | NC_000006.12:g.135098550T>C | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
2110 | rs11759553 | N/A | NC_000006.12:g.135101158A>T | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
2111 | rs6934903 | N/A | NC_000006.12:g.135130426T>A | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
2112 | rs114398597 | N/A | NC_000006.12:g.135107536A>G | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
2837 | rs9376092 | N/A | NC_000006.12:g.135106006C>A | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
2838 | rs9389269 | N/A | NC_000006.12:g.135106021T>C | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
2839 | rs9483788 | N/A | NC_000006.12:g.135114363T>C | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
2843 | rs41294858 | N/A | NC_000006.12:g.135091498T>C | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
2844 | rs55731938 | N/A | NC_000006.12:g.135093712G>A | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
2845 | rs7745098 | N/A | NC_000006.12:g.135093866C>T | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
2846 | rs76267242 | N/A | NC_000006.12:g.135096322G>T | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
2847 | rs11321816 (rs148201067) | N/A | NC_000006.12:g.135097900C>A | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
2848 | rs1074849 | N/A | NC_000006.12:g.135102274G>A | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
2849 | rs1411919 | N/A | NC_000006.12:g.135110923A>G | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
2850 | rs2223385 | N/A | NC_000006.12:g.135114033G>A | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
2851 | rs1569534 | N/A | NC_000006.12:g.135130442C>T | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
3166 | rs34208856 | N/A | NC_000006.12:g.135099930delT | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
3167 | rs11356238 | N/A | NC_000006.12:g.135103586delT | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
3168 | rs41294854 | N/A | NC_000006.12:g.135080233C>T | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
3169 | rs56076748 | N/A | NC_000006.12:g.135093071G>A | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
3170 | rs41294862 | N/A | NC_000006.12:g.135098116T>C | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
3337 | rs6920211 | N/A | NC_000006.12:g.135110180T>C | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
3410 | rs9494142 (rs11154792) | N/A | NC_000006.12:g.135110502T>C | HBS1L-MYB | Modifier | Hb F levels, F-cell numbers | NT_025741.15 | 0 |
3413 | rs6913541 | N/A | NC_000006.12:g.135087978A>G | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
3414 | rs9494139 | N/A | NC_000006.12:g.135093655A>G | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
3415 | rs6569992 | N/A | NC_000006.12:g.135131014G>A | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
3419 | rs2210366 | N/A | NC_000006.12:g.135094070G>A | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
3420 | rs9376093 | N/A | NC_000006.12:g.135124310C>T | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
3421 | rs2078213 | N/A | NC_000006.12:g.135136933T>C | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
3422 | rs1320959 | N/A | NC_000006.12:g.135116248T>C | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
3423 | rs6924609 | N/A | NC_000006.12:g.135119519A>T | NC_000006.12:g.135119519A>G | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
3424 | rs9483791 | N/A | NC_000006.12:g.135121387T>C | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
3425 | rs9376094 | N/A | NC_000006.12:g.135124676T>A | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
3426 | rs9321485 | N/A | NC_000006.12:g.135126635T>C | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
3427 | rs9321486 | N/A | NC_000006.12:g.135126682T>C | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
3428 | rs9494149 | N/A | NC_000006.12:g.135128177C>T | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
3429 | rs9376095 | N/A | NC_000006.12:g.135129617T>C | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
3430 | rs9385716 | N/A | NC_000006.12:g.135134191A>G | HBS1L-MYB | Modifier | Hb F levels | NT_025741.15 | 0 |
3290 | rs3817621 (-251 C>G ) | N/A | NG_013087.1:g.4813C>G | KLF1 | Modifier | Hb F levels | NG_013087.1 | 4813 |
2346 | -154 C>T | N/A | NG_013087.1:g.4910C>T | KLF1 | Modifier | Hb F levels | NG_013087.1 | 4910 |
3092 | -148 G>A | N/A | NG_013087.1:g.4916G>A | KLF1 | Modifier | Hb F levels | NG_013087.1 | 4916 |
2514 | CD 5 GAG>AAG [Glu>Lys] | N/A | NG_013087.1:g.5076G>A | KLF1 | Modifier | Hb F levels | NG_013087.1 | 5076 |
2084 | CD 51 (CTC>CGC) | N/A | NG_013087.1:g.6126T>G | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6126 |
2076 | CD 54-57 (-11bp): (-GAAGTCTGAGG) | N/A | NG_013087.1:g.6133_6143delGAAGTCTGAGG | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6133 |
2341 | CD 58 (CAG>TAG) | N/A | NG_013087.1:g.6146C>T | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6146 |
3291 | CD 102 TCC>CCC [Ser>Pro] (c.304T>C, p.S102P) | N/A | NG_013087.1:g.6278T>C | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6278 |
2085 | CD 175/176 (+7bp): (+CGGCGCC) (c.519_525dupCGGCGCC, p.Gly176Argfs*179) | N/A | NG_013087.1:g.6493_6499dupCGGCGCC | KLF1 | Modifier | Hb F levels, Anaemia | NG_013087.1 | 6500 |
3485 | CD 182 TTC>CTC [Phe>Leu] (rs2072596, p.F182L) | N/A | NG_013087.1:g.6518T>C | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6518 |
3216 | rs765026103 (CD 211 CAG>CGG [Gln>Arg] , c.632 A>G) | N/A | NG_013087.1:g.6606A>G | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6606 |
3087 | CD 217 CAG>TAG [Gln>Stop] | N/A | NG_013087.1:g.6623C>T | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6623 |
3088 | CD223 CAG>TAG [Gln>Stop] | N/A | NG_013087.1:g.6641C>T | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6641 |
2131 | CD 270 (TCG>TAG) | N/A | NG_013087.1:g.6783C>A | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6783 |
2515 | CD 270 TCG>TGG | N/A | NG_013087.1:g.6783C>G | KLF1 | Modifier | Hb F levels, Anaemia | NG_013087.1 | 6783 |
2557 | CD 279 (CAC>CAG) | N/A | NG_013087.1:g.6811C>G | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6811 |
2088 | CD 288 (AAG>TAG) | N/A | NG_013087.1:g.6836A>T | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6836 |
3091 | CD 290/293 (-12bp) or CD 290/294 (-12bp) | N/A | NG_013087.1:g.6842_6853delTACACCAAGAGC | NG_013087.1:g.6843_6854delACACCAAGAGCT | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6842, 6843 |
2345 | CD 298 (GCG>CCG) | N/A | NG_013087.1:g.6866G>C | KLF1 | Modifier | Hb F levels, Anaemia | NG_013087.1 | 6866 |
2512 | CD 299 (CAT>GAT) | N/A | NG_013087.1:g.6869C>G | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6869 |
2077 | CD 301 CGC>TGC [Arg>Cys] (p.R301C) | N/A | NG_013087.1:g.6875C>T | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6875 |
2078 | CD 301 CGC>CAC [Arg>His] (p.R301H) | N/A | NG_013087.1:g.6876G>A | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6876 |
2278 | CD 302 (+4bp): (+GCGC) | N/A | NG_013087.1:g.6877_6878insGCGC | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6877 |
2083 | IVS II-1 (G>A) (c.913+1 G>A) | N/A | NG_013087.1:g.6888G>A | KLF1 | Modifier | Hb F levels | NG_013087.1 | 6888 |
2087 | IVS II-252_255 (-4bp): (-CTAG) | N/A | NG_013087.1:g.7140_7143delCTAG | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7140 |
3090 | CD 307 AAG>AAC [Lys>Asn] | N/A | NG_013087.1:g.7151G>C | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7151 |
2079 | CD 313 (TGG>TGT) | N/A | NG_013087.1:g.7169G>T | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7169 |
3486 | CD 314 GAA>GA- (c.942delA) | N/A | NG_013087.1:g.7172delA | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7172 |
3093 | CD 316 TGC>TAC [Cys>Tyr] | N/A | NG_013087.1:g.7177G>A | KLF1 | Modifier | Hb F levels, Anaemia | NG_013087.1 | 7177 |
3138 | CD 323 TCG>TTG [Ser>Leu] (p.Ser323Leu) | N/A | NG_013087.1:g.7198C>T | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7198 |
2132 | CD 325 GAG>AAG [Glu>Lys] (E325K) | N/A | NG_013087.1:g.7203G>A | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7203 |
2080 | CD 328 (CGC>CAC) | N/A | NG_013087.1:g.7213G>A | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7213 |
2081 | CD 328 (CGC>CTC) | N/A | NG_013087.1:g.7213G>T | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7213 |
2558 | CD 329 (CAC>CGC) | N/A | NG_013087.1:g.7216A>G | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7216 |
2343 | CD 331 (CGG>TGG) | N/A | NG_013087.1:g.7221C>T | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7221 |
2277 | CD 332 (AAA>CAA) | N/A | NG_013087.1:g.7224A>C | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7224 |
2082 | CD 334 (ACG>AAG) | N/A | NG_013087.1:g.7231C>A | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7231 |
2086 | CD 334 (ACG>AGG) | N/A | NG_013087.1:g.7231C>G | KLF1 | Modifier | Hb F levels, Anaemia | NG_013087.1 | 7231 |
2344 | CD 335 GGG>AGG | N/A | NG_013087.1:g.7233G>A | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7233 |
2513 | rs483352839 (CD 341 TGC>TAC [Cys>Tyr], C341Y) | N/A | NG_013087.1:g.7252G>A | KLF1 | Modifier | Hb F levels, Increased Hb A2 levels | NG_013087.1 | 7252 |
2559 | CD 357 (CAC>CCC) | N/A | NG_013087.1:g.7300C>G | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7300 |
3089 | CD 358 ATG>ATT [Met>Ile] | N/A | NG_013087.1:g.7304G>T | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7304 |
3149 | CD 360 CGC>CAC [Arg>His] | N/A | NG_013087.1:g.7309G>A | KLF1 | Modifier | Hb F levels | NG_013087.1 | 7309 |
2113 | rs6530488 | N/A | NG_016419.1:g.49197C>T | FRMPD4 | Modifier | Hb F levels | NG_016419.1 | 49197 |
3698 | rs16998911 | N/A | NG_016419.1:g.49280T>C | FRMPD4 | Modifier | Hb F levels, F-cell numbers | NG_016419.1 | 49280 |
2115 | rs16981804 | N/A | NG_007563.2:g.133649C>T | PHEX | Modifier | Hb F levels | NG_007563.1 | 133649 |
2117 | rs6037828 | N/A | NG_011970.1:g.40474G>A | CSNK2A1 | Modifier | Hb F levels | NG_011970.1 | 40474 |
2120 | -495 (A>T) (rs2071746) | N/A | NG_023030.1:g.4613A>T | HMOX1 | Modifier | Hb F levels, Stroke, Vaso-occlusive crisis | NG_023030.1 | 4613 |
2118 | rs4969555 | N/A | NG_016387.1:g.6517A>G | EIF2S3 | Modifier | Hb F levels | NG_016387.1 | 6517 |
2134 | rs2327669 | N/A | NG_011994.1:g.47849C>G | PDE7B | Modifier | Hb F levels, Hb F response to hydroxyurea | NG_011994.1 | 47849 |
2143 | rs380620 | N/A | NG_011993.1:g.54236G>C | TOX | Modifier | Hb F levels, Hb F response to hydroxyurea | NG_011993.1 | 54236 |
2694 | rs851800 | N/A | NG_011993.1:g.97586T>G | TOX | Modifier | Hb F levels | NG_011993.1 | 97586 |
2693 | rs4737532 | N/A | NG_011993.1:g.99125C>T | TOX | Modifier | Hb F levels | NG_011993.1 | 99125 |
2692 | rs389349 | N/A | NG_011993.1:g.99652A>C | TOX | Modifier | Hb F levels | NG_011993.1 | 99652 |
2704 | rs12545204 | N/A | NG_011993.1:g.150456A>T | TOX | Modifier | Hb F levels | NG_011993.1 | 150456 |
2703 | rs10283344 | N/A | NG_011993.1:g.153441T>A | TOX | Modifier | Hb F levels | NG_011993.1 | 153441 |
2691 | rs1947178 | N/A | NG_011993.1:g.164591T>C | TOX | Modifier | Hb F levels | NG_011993.1 | 164591 |
2141 | rs12155519 | N/A | NG_011993.1:g.187938C>T | TOX | Modifier | Hb F levels, Hb F response to hydroxyurea | NG_011993.1 | 187938 |
2690 | rs6997859 | N/A | NG_011993.1:g.190657A>C | TOX | Modifier | Hb F levels | NG_011993.1 | 190657 |
2689 | rs10504269 | N/A | NG_011993.1:g.194098T>G | TOX | Modifier | Hb F levels | NG_011993.1 | 194098 |
2702 | rs2594953 | N/A | NG_011993.1:g.246558C>G | TOX | Modifier | Hb F levels | NG_011993.1 | 246558 |
2701 | rs1349115 | N/A | NG_011993.1:g.275034A>G | TOX | Modifier | Hb F levels | NG_011993.1 | 275034 |
2700 | rs3779999 | N/A | NG_011993.1:g.292546G>A | TOX | Modifier | Hb F levels | NG_011993.1 | 292546 |
2699 | rs826730 | N/A | NG_011993.1:g.295878A>C | TOX | Modifier | Hb F levels | NG_011993.1 | 295878 |
2698 | rs7817609 | N/A | NG_011993.1:g.301929G>C | TOX | Modifier | Hb F levels | NG_011993.1 | 301929 |
2697 | rs7821556 | N/A | NG_011993.1:g.304719A>T | TOX | Modifier | Hb F levels | NG_011993.1 | 304719 |
2696 | rs3109904 | N/A | NG_011993.1:g.311267T>G | TOX | Modifier | Hb F levels | NG_011993.1 | 311267 |
2695 | rs2726599 | N/A | NG_011993.1:g.318072G>A | TOX | Modifier | Hb F levels | NG_011993.1 | 318072 |
2707 | rs1483757 | N/A | NG_011991.2:g.43043T>C | NOS1 | Modifier | Hb F levels | NG_011991.2 | 43043 |
2706 | rs3825102 | N/A | NG_011991.2:g.84398G>T | NOS1 | Modifier | Hb F levels | NG_011991.2 | 84398 |
2705 | rs2682820 | N/A | NG_011991.2:g.108542A>C | NOS1 | Modifier | Hb F levels | NG_011991.2 | 108542 |
2715 | rs600640 | N/A | NG_012003.1:g.10297C>T | FLT1 | Modifier | Hb F levels | NG_012003.1 | 10297 |
2714 | rs670084 | N/A | NG_012003.1:g.24482G>T | FLT1 | Modifier | Hb F levels | NG_012003.1 | 24482 |
2713 | rs2256849 | N/A | NG_012003.1:g.28414T>C | FLT1 | Modifier | Hb F levels | NG_012003.1 | 28414 |
2712 | rs638889 | N/A | NG_012003.1:g.29914A>G | FLT1 | Modifier | Hb F levels | NG_012003.1 | 29914 |
2162 | rs8002446 | N/A | NG_012003.1:g.76866C>T | FLT1 | Modifier | Hb F levels, Hb F response to hydroxyurea | NG_012003.1 | 76866 |
2148 | rs2182008 | N/A | NG_012003.1:g.87205T>C | FLT1 | Modifier | Hb F levels, Hb F response to hydroxyurea | NG_012003.1 | 87205 |
2711 | rs9508026 | N/A | NG_012003.1:g.89866G>A | FLT1 | Modifier | Hb F levels | NG_012003.1 | 89866 |
2710 | rs9513097 | N/A | NG_012003.1:g.97877G>A | FLT1 | Modifier | Hb F levels | NG_012003.1 | 97877 |
2709 | rs2387632 | N/A | NG_012003.1:g.157923A>G | FLT1 | Modifier | Hb F levels | NG_012003.1 | 157923 |
2708 | rs7987291 | N/A | NG_012003.1:g.180060T>C | FLT1 | Modifier | Hb F levels | NG_012003.1 | 180060 |
2274 | rs10483801 | N/A | NG_011964.1:g.35428C>A | ARG2 | Modifier | Hb F levels, Hb F response to hydroxyurea | NG_011964.1 | 35428 |
2867 | rs8175347 | N/A | NG_002601.2:g.175492_175493TA[5][6][7][8] | UGT1A1 | Modifier | Hb F levels, Gallstones, Bilirubin levels, Abnormal red blood cell count, Anaemia | NG_002601.2 | 175492 |
2716 | rs8038623 | N/A | NG_011990.1:g.53281G>A | SMAD3 | Modifier | Hb F levels | NG_011990.1 | 53281 |
2717 | rs1440372 | N/A | NG_012244.1:g.43478T>C | SMAD6 | Modifier | Hb F levels | NG_012244.1 | 43478 |
2774 | rs398655 | N/A | NG_011485.1:g.2082A>C | KL | Modifier | Hb F levels | NG_011485.1 | 2082 |
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 | Hb F levels, Leg ulcers, Osteonecrosis/Avascular necrosis | NG_011485.1 | 27562 |
2749 | rs9527025 | N/A | NG_011485.1:g.42623G>C | KL | Modifier | Hb F levels | NG_011485.1 | 42623 |
2750 | rs648202 | N/A | NG_011485.1:g.49893T>C | KL | Modifier | Hb F levels | NG_011485.1 | 49893 |
2745 | rs2305948 | N/A | NG_012004.1:g.17205G>A | KDR | Modifier | Hb F levels | NG_012004.1 | 17205 |
2744 | rs7654599 | N/A | NG_012004.1:g.20595G>A | KDR | Modifier | Hb F levels | NG_012004.1 | 20595 |
2743 | rs6828477 | N/A | NG_012004.1:g.29962G>A | KDR | Modifier | Hb F levels | NG_012004.1 | 29962 |
2742 | rs6554233 | N/A | NG_012004.1:g.31044T>C | KDR | Modifier | Hb F levels | NG_012004.1 | 31044 |
2728 | rs590086 | N/A | NG_011542.1:g.28566C>T | ASS1 | Modifier | Hb F levels | NG_011542.1 | 28566 |
2729 | rs652313 | N/A | NG_011542.1:g.31827A>G | ASS1 | Modifier | Hb F levels | NG_011542.1 | 31827 |
2730 | rs12555797 | N/A | NG_011542.1:g.42933A>G | ASS1 | Modifier | Hb F levels | NG_011542.1 | 42933 |
2731 | rs543048 | N/A | NG_011542.1:g.49539A>T | ASS1 | Modifier | Hb F levels | NG_011542.1 | 49539 |
2732 | rs4468448 | N/A | NG_011963.2:g.47702T>C | ALOX5AP | Modifier | Hb F levels | NG_011963.2 | 47702 |
2733 | rs4769058 | N/A | NG_011963.2:g.50817T>C | ALOX5AP | Modifier | Hb F levels | NG_011963.2 | 50817 |
2734 | rs4445746 | N/A | NC_000013.11:g.30767298G>A | ALOX5AP | Modifier | Hb F levels | NG_011963.2 | 30767298 |
2805 | rs2580874 | N/A | NG_011588.1:g.11633C>T | AICDA | Modifier | Hb F levels, Severity | NG_011588.1 | 11633 |
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 |
2631 | rs16971033 | N/A | NG_032674.1:g.49520T>C | EFTUD2 | Modifier | Hb F levels | NG_032674.1 | 49520 |
2632 | rs2289673 | N/A | NG_032674.1:g.52024A>G | EFTUD2 | Modifier | Hb F levels | NG_032674.1 | 52024 |
2633 | rs2304986 | N/A | NG_032674.1:g.53940A>G | EFTUD2 | Modifier | Hb F levels | NG_032674.1 | 53940 |
2634 | rs740127 | N/A | NG_011499.1:g.187063C>T | JAZF1 | Modifier | Hb F levels | NG_011499.1 | 187063 |
2719 | rs1867380 | N/A | NG_011975.1:g.50874A>G | AQP9 | Modifier | Hb F levels | NG_011975.2 | 50874 |
2735 | rs1008140 | N/A | NG_011992.1:g.22464T>C | NOS3 | Modifier | Hb F levels | NG_011992.1 | 22464 |
2736 | rs743507 | N/A | NG_011992.1:g.24342C>T | NOS3 | Modifier | Hb F levels | NG_011992.1 | 24342 |
2737 | rs1808593 | N/A | NG_011992.1:g.25156G>T | NOS3 | Modifier | Hb F levels | NG_011992.1 | 25156 |
2741 | rs6557420 | N/A | NG_011995.1:g.19853C>A | NOX3 | Modifier | Hb F levels | NG_011995.1 | 19853 |
2740 | rs9371889 | N/A | NG_011995.1:g.39392T>C | NOX3 | Modifier | Hb F levels | NG_011995.1 | 39392 |
2739 | rs231945 | N/A | NG_011995.1:g.42114G>A | NOX3 | Modifier | Hb F levels | NG_011995.1 | 42114 |
2738 | rs231944 | N/A | NG_011995.1:g.42270A>C | NOX3 | Modifier | Hb F levels | NG_011995.1 | 42270 |
2726 | rs6654096 | N/A | NG_011988.1:g.10977A>G | GPM6B | Modifier | Hb F levels | NG_011988.1 | 10977 |
2725 | rs5979998 | N/A | NG_011988.1:g.27799C>T | GPM6B | Modifier | Hb F levels | NG_011988.1 | 27799 |
2724 | rs4830513 | N/A | NG_011988.1:g.43999C>T | GPM6B | Modifier | Hb F levels | NG_011988.1 | 43999 |
2723 | rs7890737 | N/A | NG_011988.1:g.44878C>T | GPM6B | Modifier | Hb F levels | NG_011988.1 | 44878 |
2720 | rs1005589 | N/A | NG_011988.1:g.70485C>T | GPM6B | Modifier | Hb F levels | NG_011988.1 | 70485 |
2721 | rs11095629 | N/A | NG_011988.1:g.111047G>A | GPM6B | Modifier | Hb F levels | NG_011988.1 | 111047 |
2722 | rs5978663 | N/A | NG_011988.1:g.157872G>A | GPM6B | Modifier | Hb F levels | NG_011988.1 | 157872 |
2622 | rs157681 | N/A | NG_011966.2:g.45247C>G | MAP3K7 | Modifier | Hb F levels | NG_011966.2 | 45247 |
2621 | rs1145729 | N/A | NG_011966.2:g.46574C>T | MAP3K7 | Modifier | Hb F levels | NG_011966.2 | 46574 |
2891 | rs2012700 | N/A | NG_008462.1:g.40670G>A | PEX7 | Modifier | Hb F levels | NG_008462.1 | 40670 |
2892 | rs3799476 | N/A | NG_008462.1:g.45356G>A | PEX7 | Modifier | Hb F levels | NG_008462.1 | 45356 |
2893 | rs1342645 | N/A | NG_008462.1:g.68587G>A | PEX7 | Modifier | Hb F levels | NG_008462.1 | 68587 |
2627 | rs4489951 | N/A | NG_008305.1:g.36684G>A | MAP2K1 | Modifier | Hb F levels | NG_008305.1 | 36684 |
2094 | rs28384513 | N/A | NG_012002.1:g.4828A>C | HBS1L | Modifier | Hb F levels | NG_012002.1 | 4828 |
3358 | rs2297339 ( C32T, -162C>T) | N/A | NG_012002.1:g.5046C>T | HBS1L | Modifier | Hb F levels | NG_012002.1 | 5046 |
3184 | rs11754265 | N/A | NG_012002.1:g.24821C>G | HBS1L | Modifier | Hb F levels | NG_012002.1 | 24821 |
3171 | rs186765701 | N/A | NG_012002.1:g.56872T>G | HBS1L | Modifier | Hb F levels | NG_012002.1 | 56872 |
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 |
2119 | rs12103880 | N/A | NC_000017.11:g.9795025G>A | DHRS7C-GLP2R | Modifier | Hb F levels, Hb F response to hydroxyurea | N/A | |
2775 | rs1122109 | N/A | NC_000017.11:g.44807170C>A | GJC1 | Modifier | Hb F levels | N/A | |
2776 | rs2108393 | N/A | NC_000017.11:g.44803385C>T | GJC1 | Modifier | Hb F levels | N/A | |
2777 | rs776717 | N/A | NC_000015.10:g.42109454T>C | PLA2G4D-PLA2G4F | Modifier | Hb F levels | N/A | |
2791 | rs840716 | N/A | NC_000011.10:g.4932232G>T | OR51G1-OR51A3P | Modifier | Hb F levels | N/A | |
2796 | rs1391619 | N/A | NC_000011.10:g.5434699G>A | OR51B5 | Modifier | Hb F levels | N/A | |
2797 | rs7937649 | N/A | NC_000011.10:g.5201149G>A | OR51V1 | Modifier | Hb F levels | N/A | |
2798 | rs10837540 | N/A | NC_000011.10:g.5193183T>A | OR52Z1-OR51V1 | Modifier | Hb F levels | N/A | |
2829 | rs5006884 | N/A | NC_000011.10:g.5352021C>T | OR51B6 | Modifier | Hb F levels, Acute chest syndrome | N/A | |
2830 | rs4910755 | N/A | NC_000011.10:g.5351521A>C | OR51B6 | Modifier | Hb F levels | N/A | |
2831 | rs4910756 | N/A | NC_000011.10:g.5351626A>G | OR51B6 | Modifier | Hb F levels | N/A | |
2832 | rs7483122 | N/A | NC_000011.10:g.5351776T>C | OR51B6 | Modifier | Hb F levels | N/A | |
2833 | rs5006883 | N/A | NC_000011.10:g.5352081T>C | OR51B6 | Modifier | Hb F levels | N/A | |
2834 | rs5024042 | N/A | NC_000011.10:g.5352332C>A | OR51B6 | Modifier | Hb F levels | N/A | |
2835 | rs10500635 | N/A | NC_000011.10:g.5365438G>A | OR51B5 | Modifier | Hb F levels | N/A | |
2836 | rs416586 | N/A | NC_000011.10:g.5472327A>G | OR51B5 | Modifier | Hb F levels | N/A | |
2868 | rs11037191 | N/A | NC_000011.10:g.5390842A>G | OR51B5 | Modifier | Hb F levels | N/A | |
2873 | rs11036238 | N/A | NC_000011.10:g.5204405G>C | OR51V1-HBB | Modifier | Hb F levels | N/A | |
2875 | rs10836955 | N/A | NC_000011.10:g.4924401G>A | OR51G1 | Modifier | Hb F levels | N/A | |
2877 | rs2340653 | N/A | NC_000011.10:g.5430531G>A | OR51B5 | Modifier | Hb F levels | N/A | |
2878 | rs2647579 | N/A | NC_000011.10:g.5419057A>G | OR51B5 | Modifier | Hb F levels | N/A | |
2879 | rs7951206 | N/A | NC_000011.10:g.4590424G>A | OR52I2-OR52I1 | Modifier | Hb F levels | N/A | |
2880 | rs888082 | N/A | NC_000002.12:g.60402474G>A | LOC102724142 | Modifier | Hb F levels | N/A | |
2881 | rs12286144 | N/A | NC_000011.10:g.5521789T>C | OLFM5P | Modifier | Hb F levels | N/A | |
2882 | rs12802922 | N/A | NC_000011.10:g.4914380C>T | OR51G2 | Modifier | Hb F levels | N/A | |
2888 | rs2179288 | N/A | NC_000006.12:g.136368292A>G | MAP7 | Modifier | Hb F levels | N/A | |
2889 | rs2076192 | N/A | NC_000006.12:g.136377559C>A | MAP7 | Modifier | Hb F levels | N/A | |
2890 | rs3778314 | N/A | NC_000006.12:g.136516923T>C | MAP7 | Modifier | Hb F levels | N/A | |
3151 | rs10756993 | N/A | NC_000009.12:g.18839726A>C | ADAMTSL1 | Modifier | Hb F levels | N/A | |
3152 | rs62573842 | N/A | NC_000009.12:g.32264314A>G | HMGB3P23-RNA5SP281 | Modifier | Hb F levels | N/A | |
3154 | rs7163278 | N/A | NC_000015.10:g.93345162T>C | LOC105370982 | Modifier | Hb F levels | N/A | |
3155 | rs10468869 | N/A | NW_003315959.1:g.26240C>T | LOC100422053-RPS8P3 | Modifier | Hb F levels | N/A | |
3156 | rs28567737 | N/A | NC_000019.10:g.46027961T>C | LOC105372421 | Modifier | Hb F levels | N/A | |
3173 | rs11072544 | N/A | NC_000015.10:g.75373740G>A | SIN3A | Modifier | Hb F levels | N/A | |
3220 | rs4713339 | N/A | NC_000006.12:g.11287099C>T | NEDD9 | Modifier | Hb F levels | N/A | |
3285 | rs11759328 | N/A | NC_000006.12:g.129691228C>T | ARHGAP18 | Modifier | Hb F levels | N/A | |
3858 | rs1406811 | N/A | NC_000006.12:g.135118989A>C | HBS1L-MYB | Modifier | Hb F levels | N/A | |
3979 | PUM1:p.H1090Pfs*16 | N/A | NC_000001.11:g.30936810_30936813del, NM_001020658.2(PUM1):c.3267_3270del | PUM1 | Modifier | Hb F levels | N/A | |
3150 | rs6466533 | N/A | NG_011487.1:g.294999A>G | MAGI2 | Modifier | Hb F levels | NG_011487.1 | 294999 |
3153 | rs6590706 | N/A | NG_012107.1:g.72498C>T | OPCML | Modifier | Hb F levels | NG_012107.1 | 72498 |
3172 | rs4527238 | N/A | NG_012649.1:g.84516T>C | ANTXR1 | Modifier | Hb F levels | NG_012649.1 | 84516 |
3263 | rs35685045 | N/A | NG_012649.1:g.90541C>T | ANTXR1 | Modifier | Hb F levels | NG_012649.1 | 90541 |
3339 | rs2146323 | N/A | NG_008732.1:g.12143C>A | VEGFA | Modifier | Hb F levels, Hb F response to hydroxyurea | NG_008732.1 | 12143 |
3338 | rs3024997 | N/A | NG_008732.1:g.12155G>A | VEGFA | Modifier | Hb F levels | NG_008732.1 | 12155 |
3186 | rs183437571 | N/A | NG_032925.2:g.20316C>T | NFIX | Modifier | Hb F levels | NG_032925.2 | 20316 |
3585 | rs980112 | N/A | NG_033271.1:g.7618G>A | KLF10 | Modifier | Hb F levels | NG_033271.1 | 7618 |
3550 | rs3191333 | N/A | NG_033271.1:g.10912C>T | KLF10 | Modifier | Hb F levels, Response to hydroxyurea | NG_033271.1 | 10912 |
3213 | rs764833434 (R218Q) | N/A | NG_030361.1:g.7406G>A | SP1 | Modifier | Hb F levels | NG_030361.1 | 7406 |
3219 | rs557939075 | N/A | NG_009929.2:g.459084_459085insA | LARGE1 | Modifier | Hb F levels | NG_009929.2 | 459084 |
3221 | rs13080125 | N/A | NG_009227.1:g.82390T>C | PAK2 | Modifier | Hb F levels | NG_009227.1 | 82390 |
4047 | rs1470556171 | N/A | NC_000010.11:g.70151281A>C | SAR1A | Modifier | Hb F levels | NM_001142648.2 | |
3706 | rs1160065459 | N/A | NC_000019.10:g.10148923G>A | DNMT1 | Modifier | Hb F levels | NG_028016.3 | 87364 |
3978 | rs772591609 (p.Arg7Ter) | N/A | NC_000019.10:g.19465364C>T, NC_000019.10(NM_017660.5):c.19C>T | GATAD2A | Modifier | Hb F levels | NM_001384528.1 |
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IthaGenes was last updated on 2024-12-12 10:33:52