Annotation Detail

Information
Associated Genes
PTBP1
Associated Variants
DEFB1 c.-44G>C ( ENST00000297439.4 )
DEFB1 c.-44G>C ( ENST00000297439.4 )
Associated Disease
Tuberculosis, extrapulmonary
Source Database
DisGeNET
Description
SNP rs1800972 was associated with extrapulmonary tuberculosis (EPTB) in a codominant model (genotype CG, P = 0.037, OR 4.82; 95% CI: 0.92-47.42; statistical power, 82%), but not PTB (P = 0.101) in a Mexican population.
Pubmed
23953711
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2013
Drugs