IthaGenes

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Showing all entries with the following effect: promoter (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
2988	-54 G>A	N/A	HBA2:c.-91G>A	α2	Causative	α-thalassaemia	NG_000006.1	33685
2971	-44 C>A	N/A	HBA2:c.-81C>A	α2	Neutral	N/A	NG_000006.1	33695
2967	-22 C>T	N/A	HBA2:c.-59C>T	α2	Causative	α-thalassaemia	NG_000006.1	33717
3725	-4 G>C	N/A	HBA2:c.-41C>G	α2	Causative	α-thalassaemia	NG_000006.1	33735
3740	-5 C>T	N/A	HBA1:c.-42C>T	α1	Neutral	α-thalassaemia	NG_000006.1	37538
3764	-4 G>C	N/A	HBA1:c.-41C>G	α1	Causative	α-thalassaemia	NG_000006.1	37539
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
3943	-200 (+CC)	N/A	HBG2:c.-253_-254dup	Gγ	Causative	HPFH	NG_000007.3	42634
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
3790	-125 C>T	N/A	HBG2:c.-177C>T	Gγ	Causative	HPFH	NG_000007.3	42710
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
3920	-368 C>A	N/A	HBG1:c.-420C>A	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47391
3865	-219 (+AGCA)	N/A	HBG1:c.-272_-275dup	Aγ	Causative	HPFH	NG_000007.3	47537
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
3601	-130 A>G	N/A	HBD:c.-180A>G	δ	Causative	δ-thalassaemia	NG_000007.3	63003
1322	-77 T>C	N/A	HBD:c.-127T>C	δ	Causative	δ-thalassaemia	NG_000007.3	63056
3602	-44 G>A	N/A	HBD:c.-94G>A	δ	Causative	δ-thalassaemia	NG_000007.3	63089
3081	-223 T>C	N/A	HBB:c.-273T>C	β	Causative	β-thalassaemia	NG_000007.3	70322
3562	-198 A>G	N/A	HBB:c.-248A>G	β	Causative	β-thalassaemia	NG_000007.3	70347
1	-190 (G>A)	N/A	HBB:c.-240G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70355
2546	-126 C>T	N/A	HBB:c.-176C>T	β	Neutral	N/A	NG_000007.3	70419
2	-102 (C>A)	N/A	HBB:c.-152C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70443
3	-101 (C>T)	N/A	HBB:c.-151C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70444
4	-101 (C>G)	N/A	HBB:c.-151C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70444
3059	-98 T>A	N/A	HBB:c.-148T>A	β	Causative	β-thalassaemia	NG_000007.3	70447
5	-93 C>G	N/A	HBB:c.-143C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70452
6	-92 (C>T)	N/A	HBB:c.-142C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70453
7	-90 (C>T)	N/A	HBB:c.-140C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70455
3224	-90 (C>G)	N/A	HBB:c.-140C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70455
3990	-89 to -88 (-AC)	N/A	HBB:c.-139_-138delAC	β	Causative	β-thalassaemia	NG_000007.3	70456
8	-88 (C>T)	N/A	HBB:c.-138C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70457
9	-88 (C>A)	N/A	HBB:c.-138C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70457
2178	-88 C>G	N/A	HBB:c.-138C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70457
10	-87 C>G	N/A	HBB:c.-137C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70458
11	-87 (C>T)	N/A	HBB:c.-137C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70458
12	-87 (C>A)	N/A	HBB:c.-137C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70458
13	-86 C>G	N/A	HBB:c.-136C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70459
14	-86 (C>A)	N/A	HBB:c.-136C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70459
4028	-86 C>T	N/A	HBB:c.-136C>T	β	Causative	β-thalassaemia	NG_000007.3	70459
3077	-83 G>A	N/A	HBB:c.-133G>A	β	Causative	β-thalassaemia	NG_000007.3	70462
3069	-77 G>C	N/A	HBB:c.-127G>C	β	Causative	β-thalassaemia	NG_000007.3	70468
15	-73 (A>T)	N/A	HBB:c.-123A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70472
2997	-72 T>A	N/A	HBB:c.-122T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70473
2171	-71 C>T	N/A	HBB:c.-121C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70474
16	-56 G>C	N/A	HBB:c.-106G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70489
2039	-54 G>A	N/A	NG_000007.3:g.70491G>A	β	Neutral	N/A	NG_000007.3	70491
17	-50 G>A	N/A	HBB:c.-100G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70495
3060	-42 C>G	N/A	HBB:c.-92C>G	β	Causative	β-thalassaemia	NG_000007.3	70503
2172	-41 A>T	N/A	HBB:c.-91A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70504
18	-32 (C>A)	N/A	HBB:c.-82C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70513
19	-32 (C>T)	N/A	HBB:c.-82C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70513
20	-31 (A>G)	N/A	HBB:c.-81A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70514
21	-31 (A>C)	N/A	HBB:c.-81A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70514
22	-30 (T>A)	N/A	HBB:c.-80T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70515
23	-30 (T>C)	N/A	HBB:c.-80T>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70515
2179	-30 T>G	N/A	HBB:c.-80T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70515
3062	-30 (-T)	N/A	HBB:c.-80delT	β	Causative	β-thalassaemia	NG_000007.3	70515
24	-29 to -26 (-AA)	N/A	HBB:c.-79_78delAA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70516
25	-29 (A>G)	N/A	HBB:c.-79A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70516
26	-29 (A>C)	N/A	HBB:c.-79A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70516
28	-28 (A>C)	N/A	HBB:c.-78A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70517
29	-28 (A>G)	N/A	HBB:c.-78A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70517
30	-27 (A>T)	N/A	HBB:c.-77A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70518
31	-27 (-AA)	N/A	HBB:c.-77_-76delAA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70518
2175	-26 A>C	N/A	HBB:c.-76A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70519
32	-25 (G>C)	N/A	HBB:c.-75G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70520
2565	-25 G>T	N/A	HBB:c.-75G>T	β	Causative	β-thalassaemia	NG_000007.3	70520
3290	rs3817621 (-251 C>G )	N/A	NG_013087.1:g.4813C>G	KLF1	Modifier	Hb F levels	NG_013087.1	4813
3092	-148 G>A	N/A	NG_013087.1:g.4916G>A	KLF1	Modifier	Hb F levels	NG_013087.1	4916
2287	-126 (-TTT) (12020(T15>T18), c.-126TdelTTT, rs5816533 )	N/A	NT_010393.16:g.31479059delTTT	AHSP	Modifier	Anaemia	NT_010393.16	31479059
2289	IVS I-146 (G>A) (12391 (G>A), c.100-27G, rs4296276)	N/A	NT_010393.16:g.31479430G>A	AHSP	Modifier	Anaemia	NT_010393.16	31479430
2650	rs2070744 (-786T>C, T786C)	N/A	NG_011992.1:g.6933C>T	NOS3	Modifier	Acute chest syndrome, Bilirubin levels, Retinopathy, Delayed menarche, Increased lactate dehydrogenase activity, Reticulocytosis, Recurrent upper respiratory tract infections	NG_011992.1	6933
2666	rs3025058 (MMP3 -1171insA , -1171 5A/6A MMP-3)	N/A	NG_012100.1:g.3394_3395insT	MMP3	Modifier	Stroke	NG_012100.1	3394
2922	rs1800797 (-597G>A)	N/A	NG_011640.1:g.4456A>G	IL6	Modifier	Retinopathy	NG_011640.1	4456
2923	rs1800795 (-174G>C)	N/A	NG_011640.1:g.4880C>G	IL6	Modifier	Leg ulcers, Stroke	NG_011640.1	4880
3245	rs4696480	N/A	NG_016229.1:g.6686T>A	TLR2	Modifier	Recurrent respiratory infections	NG_016229.1	6686
3254	rs5742909 (-318 C/T)	N/A	NG_011502.1:g.4839C>T	CTLA4	Modifier	Red blood cell alloimmunisation	NG_011502.1	4839
3259	rs2333227 (-463G>A)	N/A	NG_009629.1:g.4535G>A	MPO	Modifier	Recurrent infections	NG_009629.1	4535
3655	rs1001179	N/A	NG_013339.2:g.4760C>T	CAT	Modifier	Response to hydroxyurea	NG_013339.2	4760
3654	rs7943316	N/A	NG_013339.2:g.5001A>T	CAT	Modifier	Response to hydroxyurea	NG_013339.2	5001

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