Annotation Detail

Information
Associated Genes
MMP3
Associated Variants
rs1799750
rs1799750
MMP12 INSERTION
MMP12 INSERTION
MMP12 INSERTION
MMP12 INSERTION
MMP12 p.Gln356= (p.Q356=) ( ENST00000571244.3 )
MMP12 p.Gln356His (p.Q356H) ( ENST00000571244.3 )
rs2276109
MMP12 p.Asn357Ser (p.N357S) ( ENST00000571244.3 )
MMP12 p.Asn357Thr (p.N357T) ( ENST00000571244.3 )
rs2276109
Associated Disease
Carcinoma of lung
Source Database
DisGeNET
Description
We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs1799750), MMP-3 (-1171 5A/6A, rs3025058), and MMP-12 (-82AG, rs2276109, and 1082A/G, rs652438) and the risk of lung cancer in 2014 Caucasian lung cancer patients and 1323 healthy controls.
Pubmed
16311244
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00135720936040152
Year of publication
2006
Drugs