Annotation Detail
Information
- Associated Genes
- IGFBP2
- Associated Variants
-
rs1996656
IGF1 c.220+4996G>T ( ENST00000337514.11, ENST00000644491.1, ENST00000392905.7, ENST00000392904.5, ENST00000307046.8, ENST00000424202.6 )
rs11111285
CCDC201 c.19-2822T>C ( ENST00000636578.2 )
IGFBP1 p.Cys230= (p.C230=) ( ENST00000275525.8, ENST00000457280.5, ENST00000468955.1 )
rs2270628
IGFBP3 p.Ala32Gly (p.A32G) ( ENST00000381083.9, ENST00000381086.9, ENST00000613132.5 )
rs2854744
rs1996656
IGF1 c.220+4996G>T ( ENST00000307046.8, ENST00000337514.11, ENST00000392904.5, ENST00000392905.7, ENST00000424202.6, ENST00000644491.1 )
rs11111285
CCDC201 c.19-2822T>C ( ENST00000636578.2 )
IGFBP1 p.Cys230= (p.C230=) ( ENST00000275525.8, ENST00000457280.5, ENST00000468955.1 )
rs2270628
IGFBP3 p.Ala32Gly (p.A32G) ( ENST00000381083.9, ENST00000381086.9, ENST00000613132.5 )
rs2854744 - Associated Disease
- Malignant neoplasm of ovary
- Source Database
- DisGeNET
- Description
- When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and rs2270628) were associated with increased ovarian cancer risk, and several IGF1 (rs11111285, rs1996656 and rs1019731) and IGFBP3 (rs2270628, rs2854746 and rs2854744) SNPs were significantly associated with IGF1, IGFBP3 and IGFBP2 plasma levels.
- Pubmed
- 19858071
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2009
Drugs