Annotation Detail

Information
Associated Genes
TP53
Associated Variants
CDKN1B c.-79T>C ( ENST00000228872.9, ENST00000614874.2 )
TP53 c.672+62A>G ( ENST00000576024.2, ENST00000359597.8, ENST00000504290.5, ENST00000413465.6, ENST00000455263.6, ENST00000604348.6, ENST00000269305.9, ENST00000445888.6, ENST00000510385.5, ENST00000420246.6, ENST00000504937.5, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
TP53 c.672+62A>C ( ENST00000618944.4, ENST00000445888.6, ENST00000455263.6, ENST00000619485.4, ENST00000620739.4, ENST00000504937.5, ENST00000619186.4, ENST00000714408.1, ENST00000576024.2, ENST00000610623.4, ENST00000420246.6, ENST00000622645.4, ENST00000714409.1, ENST00000604348.6, ENST00000359597.8, ENST00000413465.6, ENST00000714356.1, ENST00000714359.1, ENST00000610292.4, ENST00000504290.5, ENST00000269305.9, ENST00000714357.1, ENST00000510385.5, ENST00000610538.4 )
CDKN1B c.-79T>C ( ENST00000228872.9, ENST00000614874.2 )
TP53 c.672+62A>G ( ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000504290.5, ENST00000504937.5, ENST00000510385.5, ENST00000576024.2, ENST00000604348.6, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
TP53 c.672+62A>C ( ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000504290.5, ENST00000504937.5, ENST00000510385.5, ENST00000576024.2, ENST00000604348.6, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
Associated Disease
Carcinoma of lung
Source Database
DisGeNET
Description
When individuals with variant-containing genotypes were compared with homozygous wild-type carriers, a significantly increased lung cancer risk was identified for polymorphisms in p53 intron 6 [rs1625895; odds ratio (OR), 1.29; 95% confidence interval (95% CI), 1.08-1.55] and in p27 5' untranslated region (UTR; rs34330; OR, 1.27; 95% CI, 1.01-1.60).
Pubmed
17908995
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.08
Year of publication
2007
Drugs