rs77375493, INSL6;JAK2

N. diseases: 187
Disease: Erythrocytosis familial, 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Erythrocytosis familial, 1
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
Erythrocytosis familial, 1
CUI: C4551637
Disease: Erythrocytosis familial, 1
0.710 GeneticVariation CLINVAR
Erythrocytosis familial, 1
CUI: C4551637
Disease: Erythrocytosis familial, 1
0.710 CausalMutation CLINVAR