Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
ARMS2 c.297+881C>T
(
ENST00000528446.1 )
ENSG00000289697 p.Val62Ile (p.V62I), CFH p.Val62Ile (p.V62I) ( ENST00000695968.1, ENST00000696030.1, ENST00000696028.1, ENST00000630130.2, ENST00000696023.1, ENST00000696029.1, ENST00000695978.1, ENST00000695987.1, ENST00000696027.1, ENST00000695981.1, ENST00000359637.3, ENST00000695984.1, ENST00000695970.1, ENST00000367429.9, ENST00000695976.1, ENST00000695969.1, ENST00000695974.1, ENST00000695971.1, ENST00000695979.1 )
REST c.982+414G>T ( ENST00000309042.12, ENST00000622863.4, ENST00000640168.2, ENST00000640343.2, ENST00000675105.1, ENST00000675341.1 )
NR_033928.1(TNFRSF10A-DT):n.238G>T
ARMS2 c.297+881C>T ( ENST00000528446.1 )
ENSG00000289697 p.Val62Ile (p.V62I), CFH p.Val62Ile (p.V62I) ( ENST00000359637.3, ENST00000367429.9, ENST00000630130.2, ENST00000695968.1, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695978.1, ENST00000695979.1, ENST00000695981.1, ENST00000695984.1, ENST00000695987.1, ENST00000696023.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1, ENST00000696030.1 )
REST c.982+414G>T ( ENST00000309042.12, ENST00000622863.4, ENST00000640168.2, ENST00000640343.2, ENST00000675105.1, ENST00000675341.1 )
NR_033928.1(TNFRSF10A-DT):n.238G>T - Associated Disease
- age related macular degeneration
- Source Database
- DisGeNET
- Description
- In addition to CFH (rs800292, P = 4.23 × 10(-15)) and ARMS2 (rs3750847, P = 8.67 × 10(-29)) loci, we identified two new susceptibility loci for exudative AMD: TNFRSF10A-LOC389641 on chromosome 8p21 (rs13278062, combined P = 1.03 × 10(-12), odds ratio = 0.73) and REST-C4orf14-POLR2B-IGFBP7 on chromosome 4q12 (rs1713985, combined P = 2.34 × 10(-8), odds ratio = 1.30).
- Pubmed
- 21909106
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.48
- Year of publication
- 2011
Drugs