Annotation Detail

Information
Associated Genes
APC
Associated Variants
APC c.-18-3243T>G ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Ala545= (p.A545=) ( ENST00000512211.7, ENST00000504915.3, ENST00000257430.9, ENST00000508376.6, ENST00000507379.6, ENST00000509732.6, ENST00000713638.1, ENST00000713639.1 )
APC c.-18-3243T>G ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Ala545= (p.A545=) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
Associated Disease
ovarian carcinoma
Source Database
DisGeNET
Description
Our study demonstrated significantly increased APC rs11954856 and rs351771 SNP frequencies in Polish women with ovarian cancer.
Pubmed
24078348
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00190009310456212
Year of publication
2014
Drugs