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Showing all entries with clinican phenotype Anaemia (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
2569	ααα(anti-4.2) (Triplicated α (anti-4.2))	N/A	NG_000006.1:g.(31957_31978)_(34525_34544)dup	α2	Modifier	Anaemia	NG_000006.1
2561	ααα(anti-3.7) (Triplicated α (anti-3.7))	N/A	NG_000006.1:g.34247_38050dup	α1, α2	Modifier	α-thalassaemia, Anaemia	NG_000006.1
3192	rs141494605	N/A	NG_000006.1:g.27457T>C	HBM	Modifier	Anaemia	NG_000006.1	27457
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
3187	rs35152987	N/A	NG_000007.3:g.63264G>T	δ	Modifier	Anaemia	NG_000007.3	63264
3188	rs7944544	N/A	NG_000007.3:g.66997C>A	HBB-HBD	Modifier	Anaemia	NG_000007.3	66997
3189	rs7936823	N/A	NG_000007.3:g.68678C>T	β	Modifier	Anaemia, Hb F levels, Severity	NG_000007.3	68678
2067	rs7557939	N/A	NG_011968.1:g.64287C>T	BCL11A	Modifier	Anaemia, Pain, Hb F levels	NG_011968.1	64287
2065	rs11886868	N/A	NG_011968.1:g.65388G>A	BCL11A	Modifier	Hb F levels, Pain, Anaemia	NG_011968.1	65388
2071	rs1427407	N/A	NG_011968.1:g.67591A>C	BCL11A	Modifier	F-cell numbers, Pain, Hb F levels, Stroke, Hb F response to hydroxyurea, Vaso-occlusive crisis, Bilirubin levels, Abnormal platelet count, Abnormal white blood cell count, Reticulocytosis, Reticulocytopenia, Anaemia	NG_011968.1	67591
2840	rs66650371	N/A	NC_000006.12:g.135097495_135097497delTAC	HBS1L-MYB	Modifier	Hb F levels, Abnormal platelet count, Abnormal white blood cell count, Anaemia, Abnormal red blood cell count	NT_025741.15
2095	rs7776054	N/A	NC_000006.12:g.135097778A>G	HBS1L-MYB	Modifier	Anaemia	NT_025741.15	39588373
2085	CD 175/176 (+7bp): (+CGGCGCC) (p.Gly176Argfs*179, c.519_525dupCGGCGCC)	N/A	NG_013087.1:g.6493_6499dupCGGCGCC	KLF1	Modifier	Anaemia, Hb F levels	NG_013087.1	6500
2515	CD 270 TCG>TGG	N/A	NG_013087.1:g.6783C>G	KLF1	Modifier	Hb F levels, Anaemia	NG_013087.1	6783
2345	CD 298 (GCG>CCG)	N/A	NG_013087.1:g.6866G>C	KLF1	Modifier	Anaemia, Hb F levels	NG_013087.1	6866
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
2517	CD 328 CGC>-GC	N/A	NG_013087.1:g.7212delC	KLF1	Modifier	Anaemia	NG_013087.1	7212
2086	CD 334 (ACG>AGG)	N/A	NG_013087.1:g.7231C>G	KLF1	Modifier	Hb F levels, Anaemia	NG_013087.1	7231
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
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) (rs4296276, c.100-27G, 12391 (G>A))	N/A	NT_010393.16:g.31479430G>A	AHSP	Modifier	Anaemia	NT_010393.16	31479430
2291	CD 56 GTG > GGG (V56G, rs186590045)	N/A	NT_010393.16:g.31479870T>G	AHSP	Modifier	Anaemia	NT_010393.16	31479870
3332	rs4025935	N/A	NG_009246.1:g.4023_4024delTG	GSTM1	Modifier	Cardiac iron load, Anaemia	NG_009246.1	4023
2948	rs1799983 (G894T)	N/A	NG_011992.1:g.12965T>G	NOS3	Modifier	Anaemia, Delayed menarche, Abnormal haematocrit, Increased lactate dehydrogenase activity, Reticulocytosis	NG_011992.1	12965
3194	rs570013781	N/A	NG_029669.1:g.44159C>T	NPRL3	Modifier	Anaemia	NG_029669.1	44159
2925	rs186996510 (12C>G)	N/A	NG_015865.1:g.8168C>G	EGLN1	Modifier	Anaemia	NG_015865.1	8168
2927	rs13419896	N/A	NG_016000.1:g.36805G>A	EPAS1	Modifier	Anaemia	NG_016000.1	36805
2926	rs4953354	N/A	NG_016000.1:g.55848A>G	EPAS1	Modifier	Anaemia	NG_016000.1	55848
3082	rs2413450	N/A	NG_012856.2:g.40380A>G	TMPRSS6	Modifier	Anaemia	NG_012856.2	40380
3083	rs4820268	N/A	NG_012856.2:g.41013C>T	TMPRSS6	Modifier	Anaemia	NG_012856.2	41013
3097	rs1867504	N/A	NG_008673.3:g.196A>G	TF	Modifier	Anaemia, Increased serum ferritin	NG_013080.1	196
3099	rs3811658	N/A	NG_013080.1:g.16876C>T	TF	Modifier	Anaemia	NG_013080.1	16876
3122	rs10421768	N/A	NG_011563.1:g.4490A>G	HAMP	Modifier	Anaemia, Increased liver iron level, Increased serum ferritin	NG_011563.1	4490
3123	rs10904850	N/A	NG_008967.1:g.179110C>T	CUBN	Modifier	Anaemia	NG_008967.1	179110
2924	rs4786504	N/A	NC_000016.10:g.4487692T>C	HMOX2	Modifier	Anaemia	N/A
3181	rs141006889	N/A	NC_000016.10:g.88534873A>G	FOG1	Modifier	Anaemia	N/A
3157	rs45496295	N/A	NG_009617.1:g.6420G>A	CEBPE	Modifier	Anaemia	NG_009617.1	6420
3182	rs113267280	N/A	NG_041939.1:g.69122A>C	CCND3	Modifier	Anaemia	NG_041939.1	69122
3193	rs148706947	N/A	NG_012267.1:g.65247G>A	AXIN1	Modifier	Anaemia	NG_012267.1	65247
3195	rs5030868	N/A	NG_009015.2:g.18154C>T	G6PD	Modifier	Anaemia	NG_009015.2	18154
3257	rs231841	N/A	NG_008935.1:g.262384G>T	KCNQ1	Modifier	Anaemia	NG_008935.1	262384

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