rs2285947

This is a intron variant variant in the DNAH11 gene.

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GWAS Catalog Trait Associations (5)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

low density lipoprotein cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.02
p 1.0e-22
N 355,197
Major Consortium StudyLarge GWAS
multi-ancestry

total cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.02
p 2.0e-21
N 355,858
Major Consortium StudyLarge GWAS
multi-ancestry

apolipoprotein B measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.02
p 3.0e-20
N 354,097
Major Consortium StudyLarge GWAS
multi-ancestry

lung carcinoma, squamous cell carcinoma, gastric carcinoma

Jin G et al. “Genetic variants at 6p21.1 and 7p15.3 are associated with risk of multiple cancers in Han Chinese.” American Journal of Human Genetics 91(5):928-34 (2012)
Allele A
OR 1.17
p 1.0e-16
N 9,374
Large GWAS
East Asian

lung carcinoma

Jin G et al. “Genetic variants at 6p21.1 and 7p15.3 are associated with risk of multiple cancers in Han Chinese.” American Journal of Human Genetics 91(5):928-34 (2012)
Allele A
OR 1.17
p 2.0e-8
N 9,374
Large GWAS
East Asian

About DNAH11

This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013]

View all DNAH11 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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