Annotation Detail
Information
- Associated Genes
- PHRF1
- Associated Variants
-
PHRF1 c.421-1820T>C
(
ENST00000533464.5,
ENST00000416188.3,
ENST00000264555.10,
ENST00000413872.6 )
IRF7 p.Gln425Arg (p.Q425R) ( ENST00000397570.5, ENST00000525445.6, ENST00000397566.5, ENST00000330243.9, ENST00000348655.11 )
PHRF1 c.421-1820T>C ( ENST00000264555.10, ENST00000413872.6, ENST00000416188.3, ENST00000533464.5 )
IRF7 p.Gln425Arg (p.Q425R) ( ENST00000330243.9, ENST00000348655.11, ENST00000397566.5, ENST00000397570.5, ENST00000525445.6 ) - Associated Disease
- Lupus Erythematosus, Systemic
- Source Database
- DisGeNET
- Description
- We genotyped one KIAA1542 SNP (rs4963128) and one IRF7 SNP (rs1131665 [Q412R]) in an Asian population (1,302 cases, 1,479 controls), to assess their association with SLE.
- Pubmed
- 21360504
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.256188161367959
- Year of publication
- 2011
Drugs