Annotation Detail

Information
Associated Genes
TGFB1
Associated Variants
CCDC97 c.*986G>A ( ENST00000269967.4 )
CCDC97 c.*1986T>C ( ENST00000269967.4 )
rs2808630
CRP c.*1082G>A ( ENST00000368112.5, ENST00000437342.1, ENST00000255030.9 )
CCDC97 c.*986G>A ( ENST00000269967.4 )
CCDC97 c.*1986T>C ( ENST00000269967.4 )
rs2808630
CRP c.*1082G>A ( ENST00000255030.9, ENST00000368112.5, ENST00000437342.1 )
Associated Disease
Chronic Obstructive Airway Disease
Source Database
DisGeNET
Description
Haplotype analysis showed that the frequencies of the GC, GT haplotypes of rs2241718 (TGF-β1 gene), and rs6957 (CDC97 gene) were significantly higher in the control group than in the COPD case group (p=1.88×10-9); the frequencies of the TT haplotype of rs1205 and rs2808630 (CRP gene) were significantly higher in the control group (p=0.0377).
Pubmed
23267696
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.243744543754889
Year of publication
2012
Drugs