rs182123615, JAK2;INSL6

N. diseases: 7
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
0.010 GeneticVariation BEFREE The rs182123615 JAK2 variant was described in several contexts including myeloproliferative neoplasms and congenital erythrocytosis and was supposed to be pathogenic. 27106701 2016