Annotation Detail

Information
Associated Genes
ACR
Associated Variants
CD40 p.Met1= (p.M1=) ( ENST00000372276.7, ENST00000372285.8, ENST00000695671.1 )
CD40 c.51+914T>G ( ENST00000372276.7, ENST00000372285.8, ENST00000695671.1 )
CD40 c.51+1066C>A ( ENST00000372276.7, ENST00000372285.8, ENST00000695671.1 )
CD40 c.51+1066C>T ( ENST00000372276.7, ENST00000372285.8, ENST00000695671.1 )
NC_000023.11:g.136644791A>G
rs3092920
CD40 p.Met1= (p.M1=) ( ENST00000372276.7, ENST00000372285.8, ENST00000695671.1 )
CD40 c.51+914T>G ( ENST00000372276.7, ENST00000372285.8, ENST00000695671.1 )
CD40 c.51+1066C>A ( ENST00000372276.7, ENST00000372285.8, ENST00000695671.1 )
CD40 c.51+1066C>T ( ENST00000372276.7, ENST00000372285.8, ENST00000695671.1 )
NC_000023.11:g.136644791A>G
rs3092920
Associated Disease
rheumatoid arthritis
Source Database
DisGeNET
Description
One thousand five hundred and seventy-five patients fulfilling the 1987 ACR classification criteria for RA and 1600 matched controls were genotyped for the CD40 rs1883832, rs4810485 and rs1535045 and CD154 rs3092952 and rs3092920 gene polymorphisms, using predesigned TaqMan single nucleotide polymorphism genotyping assays.
Pubmed
23166616
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00570027931368637
Year of publication
2012
Drugs