rs4804149

This variant is located in the KANK2 gene.

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GWAS Catalog Trait Associations (3)

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

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 C
OR 0.03
p 2.0e-29
N 354,097
Major Consortium StudyLarge GWAS
multi-ancestry

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 C
OR 0.03
p 2.0e-28
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 C
OR 0.02
p 9.0e-20
N 355,858
Major Consortium StudyLarge GWAS
multi-ancestry
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ClinVar annotation

Benign★☆☆☆
1 submitter
View on ClinVar →
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Research that mentions this SNP (1)

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Genome‐wide association study in German patients with attention deficit/hyperactivity disorder
AssociationN=1,795Anke Hinney et al.(2011)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

A genome-wide association study in 495 German ADHD patients and 1,300 population-based controls identified 30 independent SNPs with p-values below 7.57×10^-5 for replication testing. The best SNP (rs2556378 in BCL11A, p=8.38×10^-7, OR=1.61) and second-best SNP (rs5016282 in GRM5, p=1.78×10^-6, OR=1.85) showed directionally consistent effects in replication families (n=320) and meta-analysis, but no genome-wide significant results (p<5×10^-8) were achieved despite high ADHD heritability.

Traits studied:Attention Deficit/Hyperactivity Disorder (ADHD)
PubMedDOIMetascience Observatory

About KANK2

This gene encodes a member of the KN motif and ankyrin repeat domains (KANK) family of proteins, which play a role in cytoskeletal formation by regulating actin polymerization. The encoded protein functions in the sequestration of steroid receptor coactivators and possibly other proteins. Mutations in this gene are associated with impaired kidney podocyte function and nephrotic syndrome, and keratoderma and woolly hair. [provided by RefSeq, Jul 2016]

View all KANK2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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