Variant Gene Disease 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
0.700 CausalMutation CLINVAR JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. 17267906 2007