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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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IthaGenes was last updated on 2024-12-03 11:48:06