Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 GeneticVariation BEFREE To study the prevalence of the Val617Phe JAK2 mutation in familial cases of myeloproliferative disorder (MPD) and its possible implication as a predisposing genetic factor, we analyzed 72 families including 174 patients (81 polycythemia vera [PV], 68 essential thrombocythemia [ET], 11 myelofibrosis with myeloid metaplasia [MMM], 12 chronic myeloid leukemia), 1 systemic mastocytosis, and 1 chronic myelomonocytic leukemia (CMML). 16537803

2006
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 GeneticVariation BEFREE The authors studied the biologic significance of the JAK2 (V617F) mutation in familial myeloproliferative disorders. 16998940

2006