Annotation Detail
Information
- Associated Genes
- HFE
- Associated Variants
-
ESR1 c.453-351A>G
(
ENST00000206249.8,
ENST00000338799.9,
ENST00000406599.5,
ENST00000427531.6,
ENST00000440973.5,
ENST00000443427.5,
ENST00000456483.3 )
ATXN1 c.-160-67768G>A ( ENST00000244769.8, ENST00000436367.6 )
ESR1 c.453-351A>G ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 )
ATXN1 c.-160-67768G>A ( ENST00000244769.8, ENST00000436367.6 ) - Associated Disease
- Osteoarthritis of the hand
- Source Database
- DisGeNET
- Description
- There was also a suggestive interaction between the HFE rs179945 and the ESR1 rs9340799, and the carriage of the minor allele of either of these SNPs was associated with an increased risk of symptomatic DIP OA (2.1, 1.3-2.5).
- Pubmed
- 24825461
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2014
Drugs