IthaGenes

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Showing all entries in chromosome 19 (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
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] (p.S102P, c.304T>C)	N/A	NG_013087.1:g.6278T>C	KLF1	Modifier	Hb F levels	NG_013087.1	6278
4103	p.Gly176AlafsX179	N/A	NC_000019.10(NM_006563.5):c.525_526insGCGCCGG	KLF1	Modifier	N/A	NG_013087.1	6499
2085	CD 175/176 (+7bp): (+CGGCGCC) (c.519_525dupCGGCGCC, p.Gly176Argfs*179)	N/A	NG_013087.1:g.6493_6499dupCGGCGCC	KLF1	Modifier	Anaemia, Hb F levels	NG_013087.1	6500
3485	CD 182 TTC>CTC [Phe>Leu] (p.F182L, rs2072596)	N/A	NG_013087.1:g.6518T>C	KLF1	Modifier	Hb F levels	NG_013087.1	6518
3216	rs765026103 (c.632 A>G, CD 211 CAG>CGG [Gln>Arg] )	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	Anaemia, Hb F levels	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	Anaemia, Hb F levels	NG_013087.1	7177
2296	CD 319 (+1bp): (+G)	N/A	NG_013087.1:g.7184dupG	KLF1	Modifier	N/A	NG_013087.1	7184
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
2293	CD 326 (GAG>AAG)	N/A	NG_013087.1:g.7207G>T	KLF1	Modifier	N/A	NG_013087.1	7207
2294	CD 327 (ACC>AGC)	N/A	NG_013087.1:g.7210C>G	KLF1	Modifier	N/A	NG_013087.1	7210
2517	CD 328 CGC>-GC	N/A	NG_013087.1:g.7212delC	KLF1	Modifier	Anaemia	NG_013087.1	7212
2081	CD 328 (CGC>CTC)	N/A	NG_013087.1:g.7213G>T	KLF1	Modifier	Hb F levels	NG_013087.1	7213
2080	CD 328 (CGC>CAC)	N/A	NG_013087.1:g.7213G>A	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
2086	CD 334 (ACG>AGG)	N/A	NG_013087.1:g.7231C>G	KLF1	Modifier	Hb F levels, Anaemia	NG_013087.1	7231
2082	CD 334 (ACG>AAG)	N/A	NG_013087.1:g.7231C>A	KLF1	Modifier	Hb F levels	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
2516	CD 338 CCC>ACC [Pro>Thr]	N/A	NG_013087.1:g.7242C>A	KLF1	Modifier	N/A	NG_013087.1	7242
2513	rs483352839 (C341Y, CD 341 TGC>TAC [Cys>Tyr])	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
3552	APOE ε4 (rs7412, rs429358)	N/A	NG_007084.2:g.[7903T>C;8041C>T]	APOE	Modifier	Left ventricular diastolic dysfunction	NG_007084.2	7903, 8041
3086	rs1800469	N/A	NG_013364.1:g.4536T>C	TGFB1	Modifier	N/A	NG_013364.1	4536
2784	rs55659002 (713-8delC)	N/A	NG_013364.1:g.16889delC	TGFB1	Modifier	Osteoporosis	NG_013364.1	16889
2894	rs5742911	N/A	NG_009060.1:g.48389A>G	LDLR	Modifier	Stroke	NG_009060.1	48389
2949	rs8099917	N/A	NC_000019.10:g.39252525T>G	IFNL3	Modifier	Response to Hepatitis C treatment	NG_042193.1	0
2786	rs4803221	N/A	NG_042193.1:g.1483G>C	IFNL3	Modifier	Response to Hepatitis C treatment	NG_042193.1	1483
2785	rs12979860	N/A	NG_042193.1:g.1825G>A	IFNL3	Modifier	Response to Hepatitis C treatment	NG_042193.1	1825
3122	rs10421768	N/A	NG_011563.1:g.4490A>G	HAMP	Modifier	Increased serum ferritin, Increased liver iron level, Anaemia	NG_011563.1	4490
3118	rs1613662	N/A	NG_031963.2:g.18038C>T	GP6	Modifier	Thromboembolism	NG_031963.2	18038
3156	rs28567737	N/A	NC_000019.10:g.46027961T>C	LOC105372421	Modifier	Hb F levels	N/A
2787	rs4808793	N/A	NC_000019.10:g.18383027G>C	GDF15	Modifier	Abnormal hepcidin level	N/A
3186	rs183437571	N/A	NG_032925.2:g.20316C>T	NFIX	Modifier	Hb F levels	NG_032925.2	20316
3355	rs34544747	N/A	NG_008318.1:g.14743G>T	MAN2B1	Modifier	Abnormal white blood cell count, Abnormal neutrophil cell number	NG_008318.1	14743
3450	rs28626308	N/A	NC_000019.10:g.33026609C>T	RHPN2	Modifier	Hb F response to hydroxyurea	NM_033103.5	0
3455	rs34510432	N/A	NC_000019.10:g.18911007C>T	COPE	Modifier	Hb F response to hydroxyurea	NM_001330469.2	0
3511	rs7507634	N/A	NC_000019.10:g.10325886C>T	RAVER1	Modifier	Pain	NM_133452.3	0
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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