JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Disease: ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912473
rs121912473
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C4016234
Disease:
ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC 		TT 0.700 CausalMutation CLINVAR