rs2284665
This variant is located in the HTRA1 gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
age-related macular degeneration, disease progression measurement
Yan Q et al. “Genome-wide analysis of disease progression in age-related macular degeneration.” Human Molecular Genetics 27(5):929-940 (2018)
Allele T
OR 2.06
p 8.0e-43
N 7,738
Large GWAS
European
degeneration of macula and posterior pole
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.20
p 6.0e-13
N 57,157
Major Consortium StudyLarge GWAS
Hispanic or Latin American
Blindness
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.13
p 3.0e-11
N 400,487
Major Consortium StudyLarge GWAS
multi-ancestry
laterality measurement
Kawashima-Kumagai K et al. “A genome-wide association study identified a novel genetic loci STON1-GTF2A1L/LHCGR/FSHR for bilaterality of neovascular age-related macular degeneration.” Scientific Reports 7(1):7173 (2017)
Allele T
OR 1.72
p 2.0e-9
N 1,124
Large GWAS
multi-ancestry
stroke
Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele T
OR 0.01
p 4.0e-8
N 901,954
Large GWAS
European
▶ClinVar annotation
not_provided
1 submitterAbout HTRA1
This gene encodes a member of the trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be a regulator of cell growth. Variations in the promoter region of this gene are the cause of susceptibility to age-related macular degeneration type 7. [provided by RefSeq, Jul 2008]
View all HTRA1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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