Annotation Detail
Information
- Associated Genes
- EPOR
- Associated Variants
-
rs318699
rs10758669
rs3808850
JAK2 c.1776+220G>A ( ENST00000381652.4 )
rs318699
rs10758669
rs3808850
JAK2 c.1776+220G>A ( ENST00000381652.4 ) - Associated Disease
- Primary myelofibrosis
- Source Database
- DisGeNET
- Description
- Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single EPOR SNP (rs318699) were also significantly associated with PV but not with ET or PMF.
- Pubmed
- 18006699
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2008
Drugs