rs9376092, LOC105378010

N. diseases: 10
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mean Corpuscular Volume (result)
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
0.700 GeneticVariation GWASDB Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits. 22560525 2012
Red Blood Cell Count measurement
CUI: C0014772
Disease: Red Blood Cell Count measurement
0.700 GeneticVariation GWASDB Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits. 22560525 2012
Mean corpuscular hemoglobin concentration determination
0.700 GeneticVariation GWASDB Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits. 22560525 2012
Corpuscular Hemoglobin Concentration Mean
0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
Finding of Mean Corpuscular Hemoglobin
0.700 GeneticVariation GWASDB Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits. 22560525 2012
Hemoglobin E disease
CUI: C0238159
Disease: Hemoglobin E disease
0.700 GeneticVariation GWASCAT A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E. 20183929 2010
Red Blood Cell Count measurement
CUI: C0014772
Disease: Red Blood Cell Count measurement
0.700 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
Fetal hemoglobin determination
CUI: C0200695
Disease: Fetal hemoglobin determination
0.700 GeneticVariation GWASDB Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. 18245381 2008
Chronic myeloproliferative disorder
CUI: C1292778
Disease: Chronic myeloproliferative disorder
0.020 GeneticVariation BEFREE This study aimed to establish the additional contribution of the recently described MECOM rs2201862, HBS1L-MYB rs9376092 and THRB-RARB rs4858647 polymorphisms to the occurrence of MPN. 29047144 2018
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.020 GeneticVariation BEFREE HBS1L-MYB rs9376092 associated only with JAK2 V617F-mutated ET (OR = 1.4; 95% CI = 1.1-1.7; P-value = .003). 29047144 2018
Polycythemia Vera
CUI: C0032463
Disease: Polycythemia Vera
0.020 GeneticVariation BEFREE Furthermore, the risk alleles of <i>MECOM</i> rs2201862 and <i>HBS1L</i>-<i>MYB</i> rs9376092 were demonstrated to be negatively associated with the risk of developing polycythemia vera. 29100304 2017
Chronic myeloproliferative disorder
CUI: C1292778
Disease: Chronic myeloproliferative disorder
0.020 GeneticVariation BEFREE Here we aimed to evaluate the association of five germline variations (<i>JAK2</i> 46/1 haplotype tagged by rs12343867, <i>JAK2</i> intron 8 rs12339666, <i>TERT</i> rs2736100, <i>HBS1L</i>-<i>MYB</i> rs9376092 and <i>MECOM</i> rs2201862) and the risk of MPNs in Taiwanese population. 29100304 2017
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.020 GeneticVariation BEFREE Reduced MYB expression, previously linked to development of an ET-like disease in model systems, associates with rs9376092 in normal myeloid cells. 25849990 2015
Polycythemia Vera
CUI: C0032463
Disease: Polycythemia Vera
0.020 GeneticVariation BEFREE Two additional SNPs, rs2736100 (TERT) and rs9376092 (HBS1L/MYB), achieve genome-wide significance when including JAK2(V617F)-positive cases. rs9376092 has a stronger effect in JAK2(V617F)-negative cases with CALR and/or MPL mutations (Breslow-Day P=4.5 × 10(-7)), whereas in JAK2(V617F)-positive cases rs9376092 associates with essential thrombocythemia (ET) rather than polycythemia vera (allelic χ(2) P=7.3 × 10(-7)). 25849990 2015