rs3739070
This is a variant in the TRAF3IP1 gene that changes a methionine to an leucine.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
eye measurement
Larsson M et al. “GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development.” American Journal of Human Genetics 89(2):334-43 (2011)
Allele A
OR 0.25
p 2.0e-12
N 2,121
Large GWAS
European
intraocular pressure measurement
Gao XR et al. “Genome-wide association analyses identify new loci influencing intraocular pressure.” Human Molecular Genetics 27(12):2205-2213 (2018)
Allele A
OR 0.14
p 1.0e-8
N 115,486
Large GWAS
European
▶ClinVar annotation
Uncertain Significance★☆☆☆
1 submitter2 publicationsAbout TRAF3IP1
The protein encoded by this gene interacts with TNF receptor-associated factor 3, tethering it to cytoskeletal microtubules. The encoded protein is also an inhibitor of the innate type I IFN response. Defects in this gene are a cause of Senior-Loken syndrome 9. [provided by RefSeq, Mar 2017]
View all TRAF3IP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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