Annotation Detail
Information
- Associated Genes
- GEMIN4
- Associated Variants
-
rs1991401
GEMIN4 p.Arg1033Cys (p.R1033C) ( ENST00000576778.1, ENST00000319004.6 )
DROSHA c.*92T>C ( ENST00000344624.8, ENST00000511367.6, ENST00000513349.5 )
AGO2 c.215+758A>G ( ENST00000220592.10, ENST00000519980.5 )
rs1991401
GEMIN4 p.Arg1033Cys (p.R1033C) ( ENST00000319004.6, ENST00000576778.1 )
DROSHA c.*92T>C ( ENST00000344624.8, ENST00000511367.6, ENST00000513349.5 )
AGO2 c.215+758A>G ( ENST00000220592.10, ENST00000519980.5 ) - Associated Disease
- malignant peripheral nerve sheath tumor
- Source Database
- DisGeNET
- Description
- Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA rs10719, OR=1.64, 95% CI, 1.23-2.20, P=8.76 × 10(-4); AGO2 rs7005286, OR=0.48, 95% CI, 0.32-0.72, P=3.46 × 10(-4); GEMIN4 rs7813, OR=0.50, 95% CI, 0.34-0.72, P=2.65 × 10(-4)) were significantly associated with MPNST risk.
- Pubmed
- 23763827
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs