Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C3281125
Disease: THROMBOCYTHEMIA 3
THROMBOCYTHEMIA 3
0.800 GeneticVariation UNIPROT Germline JAK2 mutation in a family with hereditary thrombocytosis. 22397670

2012

dbSNP: rs77375493
rs77375493
CUI: C3281125
Disease: THROMBOCYTHEMIA 3
THROMBOCYTHEMIA 3
0.800 GeneticVariation UNIPROT Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. 16325696

2005

dbSNP: rs77375493
rs77375493
CUI: C3281125
Disease: THROMBOCYTHEMIA 3
THROMBOCYTHEMIA 3
T 0.800 CausalMutation CLINVAR

dbSNP: rs77375493
rs77375493
CUI: C3281125
Disease: THROMBOCYTHEMIA 3
THROMBOCYTHEMIA 3
A 0.800 CausalMutation CLINVAR