Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2736100
rs2736100
0.030 GeneticVariation BEFREE When stratified by disease subtypes, the <i>JAK2</i> 46/1 haplotype and <i>JAK2</i> rs12339666 were significantly associated with all three MPN subtypes, but <i>TERT</i> rs2736100 was only associated with essential thrombocythemia and polycythemia vera. 29100304

2017

dbSNP: rs2736100
rs2736100
0.030 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

dbSNP: rs2736100
rs2736100
0.030 GeneticVariation BEFREE These three polymorphisms, along with JAK2 46/1 and TERT rs2736100 were genotyped in 939 MPN patients (454 with ET, 337 with PV and 148 with PMF) and 483 controls. 29047144

2018