Annotation Detail

Information
Associated Genes
FASN
Associated Variants
ACTA2 c.-24+1440C>T ( ENST00000458159.6, ENST00000713602.1, ENST00000415557.2 )
FASN SNV ( ENST00000415557.2, ENST00000458159.6, ENST00000713602.1 )
ACTA2 c.-24+733T>C ( ENST00000713602.1, ENST00000458159.6, ENST00000415557.2 )
NC_000001.11:g.172658358C>T
FASLG c.395-124A>G ( ENST00000340030.4, ENST00000367721.3 )
ACTA2 c.-24+1440C>T ( ENST00000415557.2, ENST00000458159.6, ENST00000713602.1, ENST00000690268.1 )
FASN SNV ( ENST00000415557.2, ENST00000458159.6, ENST00000713602.1, ENST00000690268.1 )
ACTA2 c.-24+733T>C ( ENST00000415557.2, ENST00000458159.6, ENST00000713602.1, ENST00000690268.1 )
NC_000001.11:g.172658358C>T
FASLG c.395-124A>G ( ENST00000340030.4, ENST00000367721.3 )
Associated Disease
Squamous cell carcinoma of oropharynx
Source Database
DisGeNET
Description
Thus, we determined the associations between four FAS and FASLG promoter variants (FAS1377G>A, rs2234767; 670A>G, rs1800682; FASLG844T>C, rs763110 and 124A>G, rs5030772) and the risk of recurrence of squamous cell carcinoma of the oropharynx (SCCOP).
Pubmed
25976983
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2015
Drugs