Annotation Detail

Information
Associated Genes
ERCC1
Associated Variants
CD3EAP SNV ( ENST00000309424.8 )
CD3EAP SNV ( ENST00000309424.8 )
Associated Disease
Malignant neoplasm of breast
Source Database
DisGeNET
Description
The haplotype at chromosome 19q13.2-3 encompassing the three SNPs ASE-1 G-21A, RAI IVS1 A4364G and ERCC1 Asn118Asn have been associated with risk of breast cancer and lung cancer.
Pubmed
18289367
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0178068810787768
Year of publication
2008
Drugs