Annotation Detail
Information
- Associated Genes
- TGFB1
- Associated Variants
-
RBFOX1 c.4-30084C>T
(
ENST00000641259.1,
ENST00000553186.5,
ENST00000547372.5,
ENST00000422070.8,
ENST00000550418.6 )
TGFB1 p.Pro10Leu (p.P10L) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1, ENST00000539627.5 )
TGFB1 p.Pro10Arg (p.P10R) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1, ENST00000539627.5 )
RBFOX1 c.4-30084C>T ( ENST00000422070.8, ENST00000547372.5, ENST00000550418.6, ENST00000553186.5, ENST00000641259.1 )
TGFB1 p.Pro10Leu (p.P10L) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1, ENST00000539627.5 )
TGFB1 p.Pro10Arg (p.P10R) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1, ENST00000539627.5 ) - Associated Disease
- Osteoarthritis of the hand
- Source Database
- DisGeNET
- Description
- Of the SNPs, rs716508 in A2BP1 was associated with ROA (OR = 0.7, 95% CI 0.5-0.9) and rs1800470 in TGFB1 with symptomatic DIP OA (1.8, 1.2-2.9).
- Pubmed
- 24825461
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs