Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.040 GeneticVariation BEFREE Should We Screen for Janus Kinase 2 V617F Mutation in Cerebral Venous Thrombosis? 28609766

2017

dbSNP: rs77375493
rs77375493
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.040 GeneticVariation BEFREE Patients with cerebral venous thrombosis can carry the JAK2 V617F mutation, irrespective of blood count. 22469236

2012

dbSNP: rs77375493
rs77375493
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.040 GeneticVariation BEFREE To assess the incidence of the JAK2 V617F mutation among patients with splanchnic or cerebral venous thrombosis with or without overt CMD. 17263783

2007

dbSNP: rs77375493
rs77375493
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.040 GeneticVariation BEFREE Furthermore, patients affected by essential thrombocythemia who are carriers of the Janus kinase 2 Val617Phe mutation show a higher incidence of venous thromboembolism both before, and at the time of diagnosis, compared with noncarriers, and recent evidence of splanchnic and cerebral vein thrombosis in carriers of the Janus kinase 2 Val617Phe mutation has been reported. 18600099

2008