Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
rs753955
MTMR3 c.-137-15439T>C ( ENST00000323630.9, ENST00000333027.7, ENST00000351488.7, ENST00000401950.7 )
rs17728461
TP63 c.62+6895T>C ( ENST00000264731.8, ENST00000320472.9, ENST00000392460.7, ENST00000418709.6, ENST00000440651.6 )
TERT c.1574-3777G>T ( ENST00000310581.10, ENST00000334602.10 )
CLPTM1L c.1146+63T>C ( ENST00000320895.10, ENST00000507807.3, ENST00000630539.1 )
rs753955
MTMR3 c.-137-15439T>C ( ENST00000323630.9, ENST00000333027.7, ENST00000351488.7, ENST00000401950.7 )
rs17728461
TP63 c.62+6895T>C ( ENST00000264731.8, ENST00000320472.9, ENST00000392460.7, ENST00000418709.6, ENST00000440651.6 )
TERT c.1574-3777G>T ( ENST00000310581.10, ENST00000334602.10 )
CLPTM1L c.1146+63T>C ( ENST00000630539.1, ENST00000320895.10, ENST00000507807.3 ) - Associated Disease
- Carcinoma of lung
- Source Database
- DisGeNET
- Description
- The combined analyses identified six well-replicated SNPs with independent effects and significant lung cancer associations (P < 5.0 × 10(-8)) located in TP63 (rs4488809 at 3q28, P = 7.2 × 10(-26)), TERT-CLPTM1L (rs465498 and rs2736100 at 5p15.33, P = 1.2 × 10(-20) and P = 1.0 × 10(-27), respectively), MIPEP-TNFRSF19 (rs753955 at 13q12.12, P = 1.5 × 10(-12)) and MTMR3-HORMAD2-LIF (rs17728461 and rs36600 at 22q12.2, P = 1.1 × 10(-11) and P = 6.2 × 10(-13), respectively).
- Pubmed
- 21725308
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0146578610923364
- Year of publication
- 2011
Drugs