Annotation Detail

Information
Associated Genes
COL4A1
Associated Variants
COL4A1 p.Gln1334His (p.Q1334H) ( ENST00000375820.10, ENST00000650424.2, ENST00000615732.3, ENST00000714330.1 )
COL4A1 p.Gln1334His (p.Q1334H) ( ENST00000375820.10, ENST00000615732.3, ENST00000650424.2, ENST00000714330.1 )
COL4A1 p.Gln1334His (p.Q1334H) ( ENST00000375820.10, ENST00000615732.3, ENST00000650424.2, ENST00000714330.1 )
COL4A1 p.Gln1334His (p.Q1334H) ( ENST00000375820.10, ENST00000615732.3, ENST00000650424.2, ENST00000714330.1 )
Associated Disease
Mental disorders
Source Database
DisGeNET
Description
[A genome-wide association study identified a SNP in the COL4A1 gene that was significantly associated with PWV in 2 populations. Collagen type 4 is the major structural component of basement membranes, suggesting that previously unrecognized cell-matrix i]
Pubmed
20031579
Original source reporting the Gene Disease association
GAD
DisGENET score for the Gene Disease association
0.00236703197860203
Year of publication
2009
Drugs