rs121912473, JAK2;INSL6

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC
CUI: C4016234
Disease: ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC
0.700 CausalMutation CLINVAR
Polycythemia Vera
CUI: C0032463
Disease: Polycythemia Vera
0.010 GeneticVariation BEFREE One harbored a 33 bp duplication in exon 12 along with an exon 14 p.V617F mutation, another had an exon 12 p.H538_K539delinsL, and a third carried a previously unreported mutation in PV, p.L611S, alone, and in cis with p.V617F. 22642932 2012
Chronic myeloproliferative disorder
CUI: C1292778
Disease: Chronic myeloproliferative disorder
0.010 GeneticVariation BEFREE Although JAK2V617F is the predominant allele associated with MPNs, other activating Janus kinase 2 (JAK2) alleles (such as K539L, T875N) also have been identified in distinct MPNs. 21362419 2011