rs4911442

This variant is located in the NCOA6 gene.

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GWAS Catalog Trait Associations (8)

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

body height

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele G
OR 0.03
p 2.0e-49
N 405,540
Large GWAS
European

lean body mass

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele A
OR 0.02
p 1.0e-31
N 337,739
Large GWAS
European

health trait

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele G
OR 0.01
p 6.0e-20
N 405,979
Large GWAS
European

appendicular lean mass

Hernandez Cordero AI et al. “Genome-wide Associations Reveal Human-Mouse Genetic Convergence and Modifiers of Myogenesis, CPNE1 and STC2.” American Journal of Human Genetics 105(6):1222-1236 (2019)
Allele A
OR 0.08
p 1.0e-17
N 181,862
Large GWAS
European

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele G
OR 0.02
p 9.0e-13
N 1,122,049
Large GWAS
European
Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele G
OR 0.01
p 3.0e-9
N 694,649
Large GWAS
European

feeling nervous measurement

Nagel M et al. “Item-level analyses reveal genetic heterogeneity in neuroticism.” Nature Communications 9(1):905 (2018)
Allele A
OR 5.99
p 2.0e-9
N 373,121
Large GWAS
European

BMI-adjusted hip circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele G
OR 0.02
p 1.0e-8
N 219,872
Major Consortium StudyLarge GWAS
European

puberty onset measurement

Hollis B et al. “Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan.” Nature Communications 11(1):1536 (2020)
Allele G
OR 0.03
p 2.0e-8
N 205,354
Large GWAS
European
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Research that mentions this SNP (1)

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The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism
ReviewOetting WS et al.(2009)· American Journal of Medical Genetics Part A

Genome-wide association studies and comparative genomics have identified major pigmentation loci (SLC24A5, SLC45A2, TYR, OCA2, MC1R, IRF4, TPCN2) showing evidence of strong natural selection in human populations. Light skin variants in Europeans and Asians underwent complete or near-complete selective sweeps, with SLC24A5 rs1426654 and SLC45A2 variants representing independent evolutionary mechanisms. Critical skin-lightening variants arose 11,000-30,000 years ago during human demographic expansion, driven by UV radiation exposure, vitamin D synthesis requirements, and possibly sexual selection.

Traits studied:Basal cell carcinomaCutaneous melanomaEye colorHair colorMelanin contentOculocutaneous albinismPigmentationRed hairSkin color
PubMedDOIMetascience Observatory

About NCOA6

The protein encoded by this gene is a transcriptional coactivator that can interact with nuclear hormone receptors to enhance their transcriptional activator functions. This protein has been shown to be involved in the hormone-dependent coactivation of several receptors, including prostanoid, retinoid, vitamin D3, thyroid hormone, and steroid receptors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011]

View all NCOA6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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