Annotation Detail
Information
- Associated Genes
- JAK2
- Associated Variants
-
JAK2 c.1641+779C>G
(
ENST00000381652.4 )
JAK2 c.1864+404T>C ( ENST00000381652.4 )
JAK2 c.1641+779C>G ( ENST00000381652.4 )
JAK2 c.1864+404T>C ( ENST00000381652.4 ) - Associated Disease
- Primary myelofibrosis
- Source Database
- DisGeNET
- Description
- We then genotyped 138 MPN patients (33 PV, 96 ET, and 9 PMF) with known JAK2 mutational status and 107 controls for a novel SNP, in addition to two SNPs known to be part of the 46/1 haplotype (rs10974944 and rs12343867).
- Pubmed
- 22251709
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.294051045438073
- Year of publication
- 2012
Drugs