Annotation Detail
Information
- Associated Genes
- THBS1
- Associated Variants
-
THBS1 p.Asn700Ser (p.N700S)
(
ENST00000260356.6 )
THBS1 p.Asn700Ser (p.N700S) ( ENST00000260356.6 ) - Associated Disease
- Coronary heart disease
- Source Database
- DisGeNET
- Description
- A missense variant in thrombospondin-1 (N700S) was associated with an adjusted odds ratio for coronary artery disease of 11.90 (P=0.041) in homozygous individuals, who also had the lowest level of thrombospondin-1 by plasma assay (P=0.0019).
- Pubmed
- 11723011
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
- Year of publication
- 2001
Drugs