Annotation Detail

Information
Associated Genes
CXCR4
Associated Variants
CXCL12 c.*519G>A ( ENST00000395793.7, ENST00000374429.6 )
CD4 c.215-814A>T ( ENST00000011653.9, ENST00000541982.5 )
CCR7 c.10+1853G>A ( ENST00000246657.2 )
CXCR4 p.Ile142= (p.I142=) ( ENST00000241393.4, ENST00000409817.1, ENST00000466288.1, ENST00000696136.1, ENST00000696137.1, ENST00000696152.1, ENST00000696228.1 )
VEGFA c.*237C>T ( ENST00000230480.10, ENST00000372064.9, ENST00000372067.8, ENST00000372077.8, ENST00000425836.9, ENST00000520948.5, ENST00000523950.5, ENST00000672860.3 )
CXCL12 c.*519G>A ( ENST00000374429.6, ENST00000395793.7 )
CD4 c.215-814A>T ( ENST00000011653.9, ENST00000541982.5 )
CCR7 c.10+1853G>A ( ENST00000246657.2 )
CXCR4 p.Ile142= (p.I142=) ( ENST00000241393.4, ENST00000409817.1, ENST00000466288.1, ENST00000696136.1, ENST00000696137.1, ENST00000696152.1, ENST00000696228.1 )
VEGFA c.*237C>T ( ENST00000230480.10, ENST00000372064.9, ENST00000372067.8, ENST00000372077.8, ENST00000425836.9, ENST00000520948.5, ENST00000523950.5, ENST00000672860.3 )
Associated Disease
Malignant neoplasm of breast
Source Database
DisGeNET
Description
Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs3136685-rs2228014-rs1801157 (CD4- CCR7-CXCR4-CXCL12) with specific genotype patterns (AT-CC-CC and AT-AG-CC-GG) among three and four combinational SNPs were significantly low in breast cancer occurrence.
Pubmed
19196101
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0289683354424718
Year of publication
2009
Drugs