Annotation Detail

Information
Associated Genes
PLEKHA1
Associated Variants
ARMS2 p.Ala69Ser (p.A69S) ( ENST00000528446.1 )
ARMS2 p.Ala69Ser (p.A69S) ( ENST00000528446.1 )
Associated Disease
age related macular degeneration
Source Database
DisGeNET
Description
We demonstrate, by evaluating 45 tag SNPs spanning HTRA1, PLEKHA1, and predicted gene LOC387715/ARMS2, that rs10490924 SNP alone, or a variant in strong linkage disequilibrium, can explain the bulk of association between the 10q26 chromosomal region and AMD.
Pubmed
17884985
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0222794346855647
Year of publication
2007
Drugs