Annotation Detail

Information
Associated Genes
TFR2
Associated Variants
TFR2 c.473+2339G>T ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
TFR2 c.473+2339G>T ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
Associated Disease
Hematocrit level
Source Database
DisGeNET
Description
[Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.]
Pubmed
19862010
Original source reporting the Gene Disease association
GAD
DisGENET score for the Gene Disease association
0.122367031978602
Year of publication
2009
Drugs