Annotation Detail
Information
- Associated Genes
- IFNA13
- Associated Variants
-
STAT4 c.274-23582A>C
(
ENST00000392320.7,
ENST00000358470.8,
ENST00000413064.6,
ENST00000432798.2,
ENST00000450994.2,
ENST00000714287.1 )
BANK1 p.Arg61His (p.R61H) ( ENST00000322953.9, ENST00000428908.5, ENST00000444316.2, ENST00000504592.5, ENST00000508653.5 )
BANK1 p.Arg61Leu (p.R61L) ( ENST00000322953.9, ENST00000428908.5, ENST00000444316.2, ENST00000504592.5, ENST00000508653.5 )
MSH5-SAPCD1 c.864-45G>A, MSH5 c.813-45G>A ( ENST00000375703.7, ENST00000375740.7, ENST00000375750.9, ENST00000375755.8, ENST00000493662.6 )
STAT4 c.274-23582A>C ( ENST00000358470.8, ENST00000392320.7, ENST00000413064.6, ENST00000432798.2, ENST00000450994.2, ENST00000714287.1 )
BANK1 p.Arg61His (p.R61H) ( ENST00000322953.9, ENST00000428908.5, ENST00000444316.2, ENST00000504592.5, ENST00000508653.5 )
BANK1 p.Arg61Leu (p.R61L) ( ENST00000322953.9, ENST00000428908.5, ENST00000444316.2, ENST00000504592.5, ENST00000508653.5 )
MSH5-SAPCD1 c.864-45G>A, MSH5 c.813-45G>A ( ENST00000375703.7, ENST00000375740.7, ENST00000375750.9, ENST00000375755.8, ENST00000493662.6 ) - Associated Disease
- Lupus Erythematosus, Systemic
- Source Database
- DisGeNET
- Description
- Using a list of 11 single nucleotide polymorphisms from the results of genome-wide association studies for systemic lupus erythematosus, which we hypothesised would be enriched in variants that regulate type-I IFN production, we identified a genetic risk score based on 3 single nucleotide polymorphisms (rs10516487, rs3131379 and rs7574865), which correlated significantly with production of IFN-α by human peripheral leukocytes stimulated with CpG-oligonucleotide (n=60, P=1.50 × 10(-5)).
- Pubmed
- 25882064
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0228011172547455
- Year of publication
- 2015
Drugs