JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Disease: Erythrocytosis familial, 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C4551637
Disease:
Erythrocytosis familial, 1 		0.710 GeneticVariation BEFREE The recently discovered mutations in patients with CMD (V617F and exon 12 of JAK2 gene, MPL gene), and those identified in hereditary erythrocytosis and in hereditary thrombocytosis have improved our ability to discriminate these conditions. 18484677 2008
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C4551637
Disease:
Erythrocytosis familial, 1 		T 0.710 GeneticVariation CLINVAR
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C4551637
Disease:
Erythrocytosis familial, 1 		T 0.710 CausalMutation CLINVAR