Annotation Detail

Information
Associated Genes
VWF
Associated Variants
THBS1 p.Asn700Ser (p.N700S) ( ENST00000260356.6 )
THBS1 p.Asn700Ser (p.N700S) ( ENST00000260356.6 )
Associated Disease
myocardial infarction
Source Database
DisGeNET
Description
The thrombospondin-1 N700S polymorphism is associated with early myocardial infarction without altering von Willebrand factor multimer size.
Pubmed
16684956
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0192698298742915
Year of publication
2006
Drugs