Annotation Detail
Information
- Associated Genes
- AXIN2
- Associated Variants
-
AXIN2 c.2406-1000C>T
(
ENST00000307078.10,
ENST00000375702.5,
ENST00000618960.4 )
AXIN2 c.2406-1903C>T ( ENST00000375702.5, ENST00000307078.10, ENST00000618960.4 )
AXIN2 c.816-3483A>G ( ENST00000618960.4, ENST00000307078.10, ENST00000375702.5 )
AXIN2 p.Pro50Ser (p.P50S) ( ENST00000618960.4, ENST00000375702.5, ENST00000307078.10 )
rs4533622 ( ENST00000349496.11, ENST00000396183.7, ENST00000396185.8, ENST00000405570.6, ENST00000431914.6, ENST00000433400.6, ENST00000450969.6, ENST00000453024.6, ENST00000642248.1, ENST00000642315.1, ENST00000642426.1, ENST00000642836.1, ENST00000642886.1, ENST00000642986.1, ENST00000642992.1, ENST00000643031.1, ENST00000643297.1, ENST00000643541.1, ENST00000643977.1, ENST00000643992.1, ENST00000644138.1, ENST00000644524.1, ENST00000644678.1, ENST00000644867.1, ENST00000644873.1, ENST00000644906.2, ENST00000645210.1, ENST00000645276.1, ENST00000645493.1, ENST00000645900.1, ENST00000645982.1, ENST00000646116.1, ENST00000646174.1, ENST00000646369.1, ENST00000646381.1, ENST00000646725.1, ENST00000647264.1, ENST00000647390.1, ENST00000647413.2, ENST00000715148.1, ENST00000715149.1, ENST00000715151.1 )
CTNNB1 c.*555T>G ( ENST00000349496.11, ENST00000396183.7, ENST00000396185.8, ENST00000405570.6, ENST00000431914.6, ENST00000433400.6, ENST00000450969.6, ENST00000453024.6, ENST00000642248.1, ENST00000642315.1, ENST00000642426.1, ENST00000642836.1, ENST00000642886.1, ENST00000642986.1, ENST00000642992.1, ENST00000643031.1, ENST00000643297.1, ENST00000643541.1, ENST00000643977.1, ENST00000643992.1, ENST00000644524.1, ENST00000644867.1, ENST00000644873.1, ENST00000644906.2, ENST00000645210.1, ENST00000645276.1, ENST00000645493.1, ENST00000645900.1, ENST00000645982.1, ENST00000646116.1, ENST00000646369.1, ENST00000646381.1, ENST00000646725.1, ENST00000647390.1, ENST00000647413.2, ENST00000715148.1, ENST00000715149.1, ENST00000715151.1 )
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=) ( ENST00000512211.7, ENST00000504915.3, ENST00000257430.9, ENST00000508376.6, ENST00000507379.6, ENST00000509732.6, ENST00000713638.1, ENST00000713639.1 )
APC p.Val1822Asp (p.V1822D) ( ENST00000512211.7, ENST00000507379.6, ENST00000508376.6, ENST00000504915.3, ENST00000257430.9, ENST00000509732.6, ENST00000713638.1, ENST00000713639.1 )
AXIN2 c.2406-1000C>T ( ENST00000307078.10, ENST00000375702.5, ENST00000618960.4 )
AXIN2 c.2406-1903C>T ( ENST00000307078.10, ENST00000375702.5, ENST00000618960.4 )
AXIN2 c.816-3483A>G ( ENST00000307078.10, ENST00000375702.5, ENST00000618960.4 )
AXIN2 p.Pro50Ser (p.P50S) ( ENST00000307078.10, ENST00000375702.5, ENST00000618960.4 )
rs4533622 ( ENST00000349496.11, ENST00000396183.7, ENST00000396185.8, ENST00000405570.6, ENST00000431914.6, ENST00000433400.6, ENST00000450969.6, ENST00000453024.6, ENST00000642248.1, ENST00000642315.1, ENST00000642426.1, ENST00000642836.1, ENST00000642886.1, ENST00000642986.1, ENST00000642992.1, ENST00000643031.1, ENST00000643297.1, ENST00000643541.1, ENST00000643977.1, ENST00000643992.1, ENST00000644138.1, ENST00000644524.1, ENST00000644678.1, ENST00000644867.1, ENST00000644873.1, ENST00000644906.2, ENST00000645210.1, ENST00000645276.1, ENST00000645493.1, ENST00000645900.1, ENST00000645982.1, ENST00000646116.1, ENST00000646174.1, ENST00000646369.1, ENST00000646381.1, ENST00000646725.1, ENST00000647264.1, ENST00000647390.1, ENST00000647413.2, ENST00000715148.1, ENST00000715149.1, ENST00000715151.1 )
CTNNB1 c.*555T>G ( ENST00000349496.11, ENST00000396183.7, ENST00000396185.8, ENST00000405570.6, ENST00000431914.6, ENST00000433400.6, ENST00000450969.6, ENST00000453024.6, ENST00000642248.1, ENST00000642315.1, ENST00000642426.1, ENST00000642836.1, ENST00000642886.1, ENST00000642986.1, ENST00000642992.1, ENST00000643031.1, ENST00000643297.1, ENST00000643541.1, ENST00000643977.1, ENST00000643992.1, ENST00000644524.1, ENST00000644867.1, ENST00000644873.1, ENST00000644906.2, ENST00000645210.1, ENST00000645276.1, ENST00000645493.1, ENST00000645900.1, ENST00000645982.1, ENST00000646116.1, ENST00000646369.1, ENST00000646381.1, ENST00000646725.1, ENST00000647390.1, ENST00000647413.2, ENST00000715148.1, ENST00000715149.1, ENST00000715151.1 )
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 )
APC p.Val1822Asp (p.V1822D) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 ) - Associated Disease
- Malignant neoplasm of ovary
- Source Database
- DisGeNET
- Description
- We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282).
- Pubmed
- 24078348
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00290991572276264
- Year of publication
- 2014
Drugs