Annotation Detail

Information
Associated Genes
VDR
Associated Variants
VDR p.? (p.?) ( ENST00000395324.6, ENST00000549336.6, ENST00000550325.5, ENST00000229022.9 )
VDR p.? (p.?) ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 )
VDR p.? (p.?) ( ENST00000229022.9, ENST00000549336.6, ENST00000395324.6, ENST00000550325.5 )
IFNG c.366+497C>T ( ENST00000229135.4 )
IFNG c.115-483A>T ( ENST00000229135.4 )
STAT1 c.2136-318G>A ( ENST00000361099.8, ENST00000409465.5, ENST00000540176.6, ENST00000673777.1, ENST00000673816.1, ENST00000673847.1, ENST00000673942.1, ENST00000673952.1, ENST00000698141.1, ENST00000698142.1, ENST00000698145.1 )
VDR p.? (p.?) ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 )
VDR p.? (p.?) ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 )
VDR p.? (p.?) ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 )
IFNG c.366+497C>T ( ENST00000229135.4 )
IFNG c.115-483A>T ( ENST00000229135.4 )
STAT1 c.2136-318G>A ( ENST00000361099.8, ENST00000409465.5, ENST00000540176.6, ENST00000673777.1, ENST00000673816.1, ENST00000673847.1, ENST00000673942.1, ENST00000673952.1, ENST00000698141.1, ENST00000698142.1, ENST00000698145.1 )
Associated Disease
Acute Q fever
Source Database
DisGeNET
Description
Single nucleotide polymorphisms (SNPs) in the IFNG (rs2430561/rs1861493), STAT1 (rs1914408), and VDR (rs2228570) genes were determined in 85 patients from the 2007 Dutch acute Q fever outbreak, and a symptom score was calculated.
Pubmed
25577174
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2014
Drugs