Annotation Detail
Information
- Associated Genes
- BLK
- Associated Variants
-
CD40 c.51+914T>G
(
ENST00000372276.7,
ENST00000372285.8,
ENST00000695671.1 )
ENSG00000272980 c.1066-16733A>G, CCR6 c.-98+7291A>G ( ENST00000400926.5 )
ENSG00000272980 c.1066-15236G>A, CCR6 c.-98+8788G>A ( ENST00000400926.5 )
rs615672
rs660895
rs9272219
rs2736340
BLK c.-2+7538G>T ( ENST00000259089.9 )
CD40 c.51+914T>G ( ENST00000372276.7, ENST00000372285.8, ENST00000695671.1 )
ENSG00000272980 c.1066-16733A>G, CCR6 c.-98+7291A>G ( ENST00000400926.5 )
ENSG00000272980 c.1066-15236G>A, CCR6 c.-98+8788G>A ( ENST00000400926.5 )
rs615672
rs660895
rs9272219
rs2736340
BLK c.-2+7538G>T ( ENST00000259089.9 ) - Associated Disease
- rheumatoid arthritis
- Source Database
- DisGeNET
- Description
- Among these associations, we found that 8 single-nucleotide polymorphisms (SNP; rs1600249, rs2736340, rs3093023, rs3093024, rs4810485, rs615672, rs660895, and rs9272219) serve as cis-effect regulators of the corresponding eQTL genes (BLK and CD4 in non-HLA region; CCR6, HLA-DQA1, and HLA-DQB1 in HLA region) that also were differentially expressed in RA-related cell groups.
- Pubmed
- 23678157
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.128458305296208
- Year of publication
- 2014
Drugs