Annotation Detail
Information
- Associated Genes
- PXK
- Associated Variants
-
PHRF1 c.421-1820T>C
(
ENST00000533464.5,
ENST00000416188.3,
ENST00000264555.10,
ENST00000413872.6 )
ITGAM p.Arg77His (p.R77H) ( ENST00000648685.1, ENST00000544665.9 )
TYK2 p.Val362Phe (p.V362F) ( ENST00000524462.5, ENST00000525621.6, ENST00000525976.6, ENST00000531836.6, ENST00000699360.1 )
LY9 p.Met602Val (p.M602V) ( ENST00000263285.11, ENST00000392203.8, ENST00000368037.9 )
TNFSF4 c.-10+120619T>C ( ENST00000714429.1, ENST00000714471.1, ENST00000714470.1, ENST00000714430.1 )
TNFSF4 c.-10+120619T>A ( ENST00000714471.1, ENST00000714430.1, ENST00000714470.1, ENST00000714429.1 )
PXK c.388+1750G>T ( ENST00000302779.9, ENST00000356151.7, ENST00000383715.8, ENST00000383716.7, ENST00000463280.5, ENST00000479241.5, ENST00000484288.5 )
BANK1 c.71-43T>C ( ENST00000322953.9, ENST00000428908.5, ENST00000444316.2, ENST00000504592.5, ENST00000508653.5 )
rs13277113
MECP2 c.63-13972A>T ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
PHRF1 c.421-1820T>C ( ENST00000264555.10, ENST00000413872.6, ENST00000416188.3, ENST00000533464.5 )
ITGAM p.Arg77His (p.R77H) ( ENST00000544665.9, ENST00000648685.1 )
TYK2 p.Val362Phe (p.V362F) ( ENST00000524462.5, ENST00000525621.6, ENST00000525976.6, ENST00000531836.6, ENST00000699360.1 )
LY9 p.Met602Val (p.M602V) ( ENST00000263285.11, ENST00000368037.9, ENST00000392203.8 )
TNFSF4 c.-10+120619T>C ( ENST00000714429.1, ENST00000714430.1, ENST00000714470.1, ENST00000714471.1 )
TNFSF4 c.-10+120619T>A ( ENST00000714429.1, ENST00000714430.1, ENST00000714470.1, ENST00000714471.1 )
PXK c.388+1750G>T ( ENST00000302779.9, ENST00000356151.7, ENST00000383715.8, ENST00000383716.7, ENST00000463280.5, ENST00000479241.5, ENST00000484288.5 )
BANK1 c.71-43T>C ( ENST00000322953.9, ENST00000428908.5, ENST00000444316.2, ENST00000504592.5, ENST00000508653.5 )
rs13277113
MECP2 c.63-13972A>T ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 ) - Associated Disease
- rheumatoid arthritis
- Source Database
- DisGeNET
- Description
- A characteristic single-nucleotide polymorphism (SNP) in each of 9 genetic factors, ITGAM (rs1143679), C8orf13-BLK (rs13277113), TYK2 (rs2304256), 1q25.1 (rs10798269), PXK (rs6445975), KIAA1542 (rs4963128), MECP2 (rs17435), BANK1 (rs17266594), and LY9 (rs509749), was studied in 1,635 patients with RA and 1,906 control subjects from Spain.
- Pubmed
- 19714582
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.125005505829284
- Year of publication
- 2009
Drugs