Annotation Detail

Information
Associated Genes
FLT1
Associated Variants
FLT1 MUTATION
FLT1 MUTATION
FLT1 c.3175-744T>C ( ENST00000282397.9 )
FLT1 c.1970-1425A>T ( ENST00000541932.5, ENST00000639477.1, ENST00000282397.9, ENST00000615840.5 )
FLT1 c.1969+1267A>G ( ENST00000541932.5, ENST00000615840.5, ENST00000639477.1, ENST00000282397.9 )
FLT1 c.389-932C>G ( ENST00000541932.5, ENST00000615840.5, ENST00000639477.1, ENST00000282397.9 )
KDR c.3663-1396T>A ( ENST00000263923.5 )
KDR c.976+1261G>A ( ENST00000263923.5 )
KDR c.976+401G>A ( ENST00000263923.5 )
VEGFA c.-94C>G ( ENST00000372067.8, ENST00000425836.9, ENST00000672860.3 )
FLT1 c.3175-744T>C ( ENST00000282397.9 )
FLT1 c.1970-1425A>T ( ENST00000282397.9, ENST00000541932.5, ENST00000615840.5, ENST00000639477.1 )
FLT1 c.1969+1267A>G ( ENST00000282397.9, ENST00000541932.5, ENST00000615840.5, ENST00000639477.1 )
FLT1 c.389-932C>G ( ENST00000282397.9, ENST00000541932.5, ENST00000615840.5, ENST00000639477.1 )
KDR c.3663-1396T>A ( ENST00000263923.5 )
KDR c.976+1261G>A ( ENST00000263923.5 )
KDR c.976+401G>A ( ENST00000263923.5 )
VEGFA c.-94C>G ( ENST00000372067.8, ENST00000425836.9, ENST00000672860.3 )
Associated Disease
Colonic Neoplasms
Source Database
DisGeNET
Description
After stratifying by tumor molecular subtype, SNP associations observed for colon cancer were: VEGFA rs2010963 with CIMP+ colon tumors; FLT1 rs4771249 and rs7987649 with TP53; FLT1 rs3751397, rs7337610, rs7987649, and rs9513008 and KDR rs10020464, rs11941492, and rs12498529 with MSI+ and CIMP+/KRAS2-mutated tumors.
Pubmed
23794399
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2013
Drugs