Annotation Detail

Information
Associated Genes
CYBA
Associated Variants
rs1580833
CYBA c.58+290C>T ( ENST00000696163.1, ENST00000696160.1, ENST00000567174.5, ENST00000696159.1, ENST00000696161.1, ENST00000696157.1, ENST00000696162.1, ENST00000569359.5, ENST00000696158.1, ENST00000261623.8, ENST00000696156.1 )
TXN2 c.387+2309A>G ( ENST00000216185.7, ENST00000403313.5, ENST00000416967.1 )
TXN2 c.387+30A>C ( ENST00000216185.7, ENST00000403313.5, ENST00000416967.1 )
rs4821494
rs2301241
rs1580833
CYBA c.58+290C>T ( ENST00000261623.8, ENST00000567174.5, ENST00000569359.5, ENST00000696156.1, ENST00000696157.1, ENST00000696158.1, ENST00000696159.1, ENST00000696160.1, ENST00000696161.1, ENST00000696162.1, ENST00000696163.1 )
TXN2 c.387+2309A>G ( ENST00000216185.7, ENST00000403313.5, ENST00000416967.1 )
TXN2 c.387+30A>C ( ENST00000216185.7, ENST00000403313.5, ENST00000416967.1 )
rs4821494
rs2301241
Associated Disease
breast carcinoma
Source Database
DisGeNET
Description
Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per allele in the joint analysis, including SNPs in CYBA (encoding a subunit of the NADPH oxidase: rs3794624), MT2A (metallothionein 2A: rs1580833), TXN (thioredoxin: rs2301241), and in TXN2 (thioredoxin 2: rs2267337, rs2281082, rs4821494).
Pubmed
21792883
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2011
Drugs