Annotation Detail

Information
Associated Genes
PAX5
Associated Variants
rs2280714 ( ENST00000265388.10, ENST00000627585.2 )
rs2280714 ( ENST00000265388.10, ENST00000627585.2 )
Associated Disease
systemic scleroderma
Source Database
DisGeNET
Description
All 3 SNPs were significantly associated with SSc, with the rs2280714 A allele having the strongest association (allele frequency P=0.0012, odds ratio 1.42 [95% confidence interval 1.15-1.75]).
Pubmed
19479858
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2009
Drugs