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Showing all entries in locus N/A (Show All):
IthaID | Common Name | Hb Name | HGVS Name | Genes | Functionality | Phenotype |
---|---|---|---|---|---|---|
2119 | rs12103880 | N/A | NC_000017.11:g.9795025G>A | DHRS7C-GLP2R | Modifier | Hb F levels, Hb F response to hydroxyurea |
2603 | rs648464 | N/A | NC_000013.11:g.33093328G>A | STARD13 | Modifier | Osteonecrosis/Avascular necrosis |
2678 | rs8007267 | N/A | NC_000014.9:g.54912273C>T | GCH1 | Modifier | Pain |
2679 | rs17728960 | N/A | NC_000020.11:g.51513177T>C | NFATC2 | Modifier | Acute chest syndrome |
2746 | rs7985485 (hCV3118898) | N/A | NC_000013.11:g.32786336C>A | PDS5B | Modifier | Leg ulcers, Osteonecrosis/Avascular necrosis |
2751 | rs7170421 (hCV11770326) | N/A | NC_000015.10:g.60341947C>G | ANXA2 | Modifier | Osteonecrosis/Avascular necrosis |
2752 | rs7170178 | N/A | NC_000015.10:g.60341655G>A | ANXA2 | Modifier | Osteonecrosis/Avascular necrosis |
2753 | rs1033028 | N/A | NC_000015.10:g.60324736T>G | ANXA2 | Modifier | Osteonecrosis/Avascular necrosis |
2754 | rs11853426 (hCV26910500) | N/A | NC_000015.10:g.60317231C>T | ANXA2 | Modifier | Osteonecrosis/Avascular necrosis, Stroke |
2758 | rs9920494 (hCV1571628) | N/A | NC_000015.10:g.60313715T>G | ANXA2 | Modifier | Osteonecrosis/Avascular necrosis |
2760 | rs270393 | N/A | NC_000006.12:g.7768619G>C | BMP6 | Modifier | Leg ulcers, Osteonecrosis/Avascular necrosis |
2761 | rs267196 | N/A | NC_000006.12:g.7849102T>A | BMP6 | Modifier | Osteonecrosis/Avascular necrosis, Stroke, Pulmonary arterial hypertension |
2762 | rs267201 | N/A | NC_000006.12:g.7853358A>G | BMP6 | Modifier | Osteonecrosis/Avascular necrosis, Stroke, Pulmonary arterial hypertension |
2763 | rs1225934 | N/A | NC_000006.12:g.7877186A>C | BMP6 | Modifier | Osteonecrosis/Avascular necrosis |
2764 | rs3812163 | N/A | NC_000006.12:g.7725527A>T | BMP6 | Modifier | Osteonecrosis/Avascular necrosis |
2766 | rs10244884 | N/A | NC_000007.14:g.30932180T>C | AQP1 | Modifier | Priapism |
2767 | rs3768780 | N/A | NC_000002.12:g.186613773A>G | ITGAV | Modifier | Priapism |
2768 | rs219825 | N/A | NC_000007.14:g.99047942C>G | SMURF1 | Modifier | Leg ulcers |
2769 | rs736839 | N/A | NC_000018.10:g.49001695C>T | SMAD7 | Modifier | Acute chest syndrome, Leg ulcers |
2770 | rs3847859 | N/A | NC_000012.12:g.51899716G>A | ACVRL1 | Modifier | Pulmonary arterial hypertension |
2771 | rs267192 | N/A | NC_000006.12:g.7845011C>T | BMP6 | Modifier | Pulmonary arterial hypertension |
2773 | rs2238426 | N/A | NC_000016.10:g.3953732A>G | ADCY9 | Modifier | Stroke |
2775 | rs1122109 | N/A | NC_000017.11:g.44807170C>A | GJC1 | Modifier | Hb F levels |
2776 | rs2108393 | N/A | NC_000017.11:g.44803385C>T | GJC1 | Modifier | Hb F levels |
2777 | rs776717 | N/A | NC_000015.10:g.42109454T>C | PLA2G4D-PLA2G4F | Modifier | Hb F levels |
2787 | rs4808793 | N/A | NC_000019.10:g.18383027G>C | GDF15 | Modifier | Abnormal hepcidin level |
2791 | rs840716 | N/A | NC_000011.10:g.4932232G>T | OR51G1-OR51A3P | Modifier | Hb F levels |
2796 | rs1391619 | N/A | NC_000011.10:g.5434699G>A | OR51B5 | Modifier | Hb F levels |
2797 | rs7937649 | N/A | NC_000011.10:g.5201149G>A | OR51V1 | Modifier | Hb F levels |
2798 | rs10837540 | N/A | NC_000011.10:g.5193183T>A | OR52Z1-OR51V1 | Modifier | Hb F levels |
2829 | rs5006884 | N/A | NC_000011.10:g.5352021C>T | OR51B6 | Modifier | Hb F levels |
2830 | rs4910755 | N/A | NC_000011.10:g.5351521A>C | OR51B6 | Modifier | Hb F levels |
2831 | rs4910756 | N/A | NC_000011.10:g.5351626A>G | OR51B6 | Modifier | Hb F levels |
2832 | rs7483122 | N/A | NC_000011.10:g.5351776T>C | OR51B6 | Modifier | Hb F levels |
2833 | rs5006883 | N/A | NC_000011.10:g.5352081T>C | OR51B6 | Modifier | Hb F levels |
2834 | rs5024042 | N/A | NC_000011.10:g.5352332C>A | OR51B6 | Modifier | Hb F levels |
2835 | rs10500635 | N/A | NC_000011.10:g.5365438G>A | OR51B5 | Modifier | Hb F levels |
2836 | rs416586 | N/A | NC_000011.10:g.5472327A>G | OR51B5 | Modifier | Hb F levels |
2868 | rs11037191 | N/A | NC_000011.10:g.5390842A>G | OR51B5 | Modifier | Hb F levels |
2873 | rs11036238 | N/A | NC_000011.10:g.5204405G>C | OR51V1-HBB | Modifier | Hb F levels |
2875 | rs10836955 | N/A | NC_000011.10:g.4924401G>A | OR51G1 | Modifier | Hb F levels |
2877 | rs2340653 | N/A | NC_000011.10:g.5430531G>A | OR51B5 | Modifier | Hb F levels |
2878 | rs2647579 | N/A | NC_000011.10:g.5419057A>G | OR51B5 | Modifier | Hb F levels |
2879 | rs7951206 | N/A | NC_000011.10:g.4590424G>A | OR52I2-OR52I1 | Modifier | Hb F levels |
2880 | rs888082 | N/A | NC_000002.12:g.60402474G>A | LOC102724142 | Modifier | Hb F levels |
2881 | rs12286144 | N/A | NC_000011.10:g.5521789T>C | OLFM5P | Modifier | Hb F levels |
2882 | rs12802922 | N/A | NC_000011.10:g.4914380C>T | OR51G2 | Modifier | Hb F levels |
2883 | rs4821469 | N/A | NC_000022.11:g.36220399T>C | APOL4-APOL2 | Modifier | Focal segmental glomerulosclerosis |
2884 | rs4821475 | N/A | NC_000022.11:g.36273049C>T | APOL1-MYH9 | Modifier | Focal segmental glomerulosclerosis |
2886 | rs243027 | N/A | NC_000002.12:g.60379872T>G | MIR4432HG | Modifier | F-cell numbers |
2887 | rs243081 | N/A | NC_000002.12:g.60386641G>A | MIR4432HG | Modifier | F-cell numbers |
2888 | rs2179288 | N/A | NC_000006.12:g.136368292A>G | MAP7 | Modifier | Hb F levels |
2889 | rs2076192 | N/A | NC_000006.12:g.136377559C>A | MAP7 | Modifier | Hb F levels |
2890 | rs3778314 | N/A | NC_000006.12:g.136516923T>C | MAP7 | Modifier | Hb F levels |
2896 | rs3027045 | N/A | NC_000001.11:g.159212305C>T | ACKR1 | Modifier | Pulmonary arterial hypertension |
2898 | rs10492226 | N/A | NC_000012.12:g.96010211T>A | LTA4H | Modifier | Pulmonary arterial hypertension |
2899 | rs1978331 | N/A | NC_000012.12:g.96015423A>G | LTA4H | Modifier | Pulmonary arterial hypertension |
2917 | rs2310991 (-1377 G>T) | N/A | NC_000010.11:g.70171890C>A | SAR1A | Modifier | Hb F response to hydroxyurea |
2918 | rs4282891 (intron 1 +100 (G>A)) | N/A | NC_000010.11:g.70170313A>G | SAR1A | Modifier | Hb F response to hydroxyurea |
2919 | rs2295644 | N/A | NC_000014.9:g.67599842A>T | ARG2 | Modifier | Hb F response to hydroxyurea |
2924 | rs4786504 | N/A | NC_000016.10:g.4487692T>C | HMOX2 | Modifier | Anaemia |
2930 | rs3732410 (Y1212C) | N/A | NC_000003.12:g.121696873T>C | GOLGB1 | Modifier | Stroke |
2933 | rs799813 | N/A | NC_000002.12:g.154354666C>G | GALNT13 | Modifier | Pulmonary arterial hypertension |
2934 | rs10497120 | N/A | NC_000002.12:g.153513398A>C | GALNT13 | Modifier | Pulmonary arterial hypertension |
2935 | rs13407922 | N/A | NC_000002.12:g.154425285G>A | GALNT13 | Modifier | Pulmonary arterial hypertension |
2936 | rs16833378 | N/A | NC_000002.12:g.153515514A>G | GALNT13 | Modifier | Pulmonary arterial hypertension |
2937 | rs9808145 | N/A | NC_000002.12:g.154425689T>A | GALNT13 | Modifier | Pulmonary arterial hypertension |
2938 | rs7208480 | N/A | NC_000017.11:g.15770470C>T | ADORA2B | Modifier | Pulmonary arterial hypertension |
2939 | rs2794452 | N/A | NC_000001.11:g.203468576T>C | PRELP | Modifier | Pulmonary arterial hypertension |
3127 | rs141631682 | N/A | NC_000014.9:g.99865589G>A | EML1 | Modifier | Hb F response to hydroxyurea |
3128 | rs17126352 | N/A | NC_000014.9:g.73254537G>A | PAPLN | Modifier | Hb F response to hydroxyurea |
3129 | rs2273668 | N/A | NG_029518.1:g.97190C>A | SESN1 | Modifier | Hb F response to hydroxyurea |
3130 | rs61746132 | N/A | NC_000004.12:g.154235260G>A | DCHS2 | Modifier | Hb F response to hydroxyurea |
3132 | rs61742645 | N/A | NC_000007.14:g.156969123C>T | NOM1 | Modifier | Hb F response to hydroxyurea |
3151 | rs10756993 | N/A | NC_000009.12:g.18839726A>C | ADAMTSL1 | Modifier | Hb F levels |
3152 | rs62573842 | N/A | NC_000009.12:g.32264314A>G | LOC107987059 | Modifier | Hb F levels |
3154 | rs7163278 | N/A | NC_000015.10:g.93345162T>C | LOC105370982 | Modifier | Hb F levels |
3155 | rs10468869 | N/A | NW_003315959.1:g.26240C>T | LOC100422053-RPS8P3 | Modifier | Hb F levels |
3156 | rs28567737 | N/A | NC_000019.10:g.46027961T>C | LOC105372421 | Modifier | Hb F levels |
3173 | rs11072544 | N/A | NC_000015.10:g.75373740G>A | SIN3A | Modifier | Hb F levels |
3174 | rs7166737 | N/A | NC_000015.10:g.75390172A>G | SIN3A | Modifier | Hb F response to hydroxyurea |
3181 | rs141006889 | N/A | NC_000016.10:g.88534873A>G | ZFPM1 | Modifier | Anaemia |
3196 | rs1478605 | N/A | NC_000015.10:g.39581083G>A | THBS1 | Modifier | Pulmonary arterial hypertension |
3197 | rs10877969 | N/A | NC_000012.12:g.63153459T>C | AVPR1A | Modifier | Pain |
3220 | rs4713339 | N/A | NC_000006.12:g.11287099C>T | NEDD9 | Modifier | Hb F levels |
3263 | rs35685045 | N/A | NG_012649.1:g.90541C>T | ANTXR1 | Modifier | Hb F levels |
3285 | rs11759328 | N/A | NC_000006.12:g.129691228C>T | ARHGAP18 | Modifier | Hb F levels |
3300 | rs6777055 | N/A | NC_000003.12:g.55039890A>C | CACNA2D3 | Modifier | Vaso-occlusive crisis |
3304 | rs734784 | N/A | NC_000020.11:g.45094986T>C | KCNS1 | Modifier | Vaso-occlusive crisis |
3331 | rs1547247 | N/A | NC_000006.11:g.135390836G>A | HBS1L-LOC105378010 | Modifier | Hb F levels |
2591 | rs7163836 | N/A | NC_000015.10:g.60348029C>T | ANXA2 | Modifier | Osteonecrosis/Avascular necrosis |
2611 | rs2148322 | N/A | NC_000001.11:g.91656775A>C | TGFBR3 | Modifier | Stroke |
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IthaGenes was last updated on 2019-12-09 11:44:52