Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.030 GeneticVariation BEFREE Screening for the JAK2 V617F mutation in CVT patients seems to be useful even in the absence of overt MPN and/or in the presence of other risk factors for CVT because of its relatively high prevalence and the risk of thrombosis recurrence. 28609766

2017
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.030 GeneticVariation BEFREE Thrombophilia abnormalities were significantly more prevalent in the MPN-CVT and MPN-VT than in MPN-NoT group (P = 0.015), as well as the JAK2 V617F mutation in patients with essential thrombocythemia (P = 0.059). 25042466

2014
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.030 GeneticVariation BEFREE JAK2 V617F was positive in four out of seven patients with PVT and in one CVT patient. 21893442

2011