Annotation Detail
Information
- Associated Genes
- ABCA1
- Associated Variants
-
ABCA1 c.66+1594G>A
(
ENST00000374733.1,
ENST00000374736.8,
ENST00000423487.6,
ENST00000678995.1 )
ABCA1 c.66+1594G>A ( ENST00000374733.1, ENST00000374736.8, ENST00000423487.6, ENST00000678995.1 ) - Associated Disease
- Drusen
- Source Database
- DisGeNET
- Description
- The SNP rs1883025 (T allele) in ABCA1 was associated with decreased risk of progression from normal to intermediate drusen (HR per allele = 0.82 per allele, P = 9.7 × 10(-3)) and from intermediate drusen to large drusen (HR per allele = 0.77, P = 5.2 × 10(-3)).
- Pubmed
- 22247473
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2012
Drugs