rs930847
This is a intron variant variant in the LRRK1 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
central corneal thickness
Iglesias AI et al. “Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.” Nature Communications 9(1):1864 (2018)
Allele T
OR 3.64
p 2.0e-23
N 25,910
Large GWAS
multi-ancestry
Bonnemaijer PWM et al. “Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.” Communications Biology 2:435 (2019)
Allele T
OR 3.94
p 2.0e-17
N 16,204
Large GWAS
European
corneal topography
Lu Y et al. “Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.” Nature Genetics 45(2):155-63 (2013)
Allele T
OR 0.11
p 6.0e-19
N 20,020
Large GWAS
multi-ancestry
balding measurement
Yap CX et al. “Dissection of genetic variation and evidence for pleiotropy in male pattern baldness.” Nature Communications 9(1):5407 (2018)
Allele G
OR 0.02
p 4.0e-9
N 205,327
Large GWAS
European
About LRRK1
This gene encodes a multi-domain protein that is a leucine-rich repeat kinase and a GDP/GTP binding protein. The encoded protein is thought to play a role in the regulation of bone mass. Mice lacking a similar gene showed severe osteopetrosis, increased bone mineralization and decreased bone resorption. [provided by RefSeq, Jan 2017]
View all LRRK1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…