Annotation Detail

Information
Associated Genes
PSMA6
Associated Variants
PSMA6 c.-8C>G, ENSG00000258790 c.*891+13751C>G ( ENST00000627895.2, ENST00000540871.5, ENST00000261479.9, ENST00000555764.5, ENST00000553809.5, ENST00000622405.4, ENST00000628955.1 )
PSMA6 c.-8C>T, ENSG00000258790 c.*891+13751C>T ( ENST00000540871.5, ENST00000627895.2, ENST00000553809.5, ENST00000261479.9, ENST00000555764.5, ENST00000622405.4, ENST00000628955.1 )
PSMA6 c.-8C>G, ENSG00000258790 c.*891+13751C>G ( ENST00000261479.9, ENST00000540871.5, ENST00000553809.5, ENST00000555764.5, ENST00000622405.4, ENST00000627895.2, ENST00000628955.1 )
PSMA6 c.-8C>T, ENSG00000258790 c.*891+13751C>T ( ENST00000261479.9, ENST00000540871.5, ENST00000553809.5, ENST00000555764.5, ENST00000622405.4, ENST00000627895.2, ENST00000628955.1 )
Associated Disease
Coronary heart disease
Source Database
DisGeNET
Description
Quantitative assessment of the influence of PSMA6 variant (rs1048990) on coronary artery disease risk.
Pubmed
23111455
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00318135759484294
Year of publication
2013
Drugs