rs562533120, HBS1L

N. diseases: 3
Disease: Thrombocythemia, Essential ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
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