rs1134634

This variant is located in the CC2D2A gene.

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GWAS Catalog Trait Associations (10)

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

erythrocyte volume

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele C

OR —

p 3.0e-64

N 696,882

Large GWAS

multi-ancestry

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele C

OR 0.02

p 5.0e-16

N 583,955

Major Consortium StudyLarge GWAS

multi-ancestry

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele C

OR 0.03

p 3.0e-36

N 480,305

Large GWAS

multi-ancestry

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele C

OR 0.02

p 4.0e-25

N 408,112

Large GWAS

European

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele C

OR 0.02

p 1.0e-42

N 394,642

Large GWAS

European

Thompson A et al. “Assessing the impact of alcohol consumption on the genetic contribution to mean corpuscular volume.” Human Molecular Genetics 30(21):2040-2051 (2021)

Allele C

OR —

β 0.110

p 2.0e-24

N 362,595

Large GWAS

European

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)

Allele C

OR 0.03

p 8.0e-20

N 172,433

Large GWAS

European

mean corpuscular hemoglobin concentration

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele C

OR —

p 1.0e-60

N 630,125

Large GWAS

multi-ancestry

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele C

OR 0.03

p 1.0e-15

N 583,865

Major Consortium StudyLarge GWAS

multi-ancestry

mean corpuscular hemoglobin

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele C

OR 0.03

p 7.0e-46

N 408,112

Large GWAS

European

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele C

OR 0.03

p 3.0e-36

N 478,500

Large GWAS

multi-ancestry

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele C

OR 0.02

p 1.0e-44

N 394,642

Large GWAS

European

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)

Allele C

OR 0.03

p 3.0e-18

N 172,332

Large GWAS

European

erythrocyte count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele G

OR 0.03

p 6.0e-26

N 405,366

Major Consortium StudyLarge GWAS

European

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)

Allele G

OR 0.01

p 2.0e-16

N 5,314,291

Large GWAS

European, Hispanic or Latin American, East Asian, African unspecified, South Asian

mean reticulocyte volume

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele C

OR 0.02

p 3.0e-14

N 408,112

Large GWAS

European

risk-taking behaviour

Karlsson Linnér R et al. “Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.” Nature Genetics 51(2):245-257 (2019)

Allele C

OR 0.01

p 1.0e-8

N 975,353

Large GWAS

European

amount of iron in brain

Casanova F et al. “MRI-derived brain iron, grey matter volume, and risk of dementia and Parkinson's disease: Observational and genetic analysis in the UK Biobank cohort.” Neurobiology of Disease 197:106539 (2024)

Allele G

OR 0.06

p 1.0e-17

N 39,533

Major Consortium StudyLarge GWAS

European

neuroimaging measurement

Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)

Allele C

OR 0.06

p 3.0e-9

N 20,043

Major Consortium StudyLarge GWAS

European

red blood cell density

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele C

OR —

p 6.0e-27

N 727,624

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

7 submitters1 publication

not specified; Meckel syndrome, type 6; Joubert syndrome 9; not provided; Uveal melanoma; Glioma susceptibility 1

View on ClinVar →

About CC2D2A

This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

rs1134634

GWAS Catalog Trait Associations (10)

erythrocyte volume

mean corpuscular hemoglobin concentration

mean corpuscular hemoglobin

erythrocyte count

body height

mean reticulocyte volume

risk-taking behaviour

amount of iron in brain

neuroimaging measurement

red blood cell density

ClinVar annotation

About CC2D2A

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