rs41278174

This variant is located in the ABCC6 gene.

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GWAS Catalog Trait Associations (9)

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

erythrocyte count

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele A

OR 0.06

p 3.0e-21

N 928,679

Large 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 A

OR 0.05

p 2.0e-14

N 503,987

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 A

OR 0.06

p 7.0e-17

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 A

OR 0.04

p 2.0e-15

N 394,642

Large 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 A

OR 0.05

p 2.0e-18

N 545,203

Large GWAS

European

nephrolithiasis

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 0.23

p 7.0e-18

N 435,154

Major Consortium StudyLarge GWAS

European

hematocrit

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 A

OR 0.05

p 1.0e-17

N 562,259

Large GWAS

European

Allele A

OR 0.05

p 3.0e-16

N 928,679

Large 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 A

OR 0.04

p 2.0e-11

N 503,490

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 A

OR 0.05

p 6.0e-14

N 408,112

Large GWAS

European

bladder calculus

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 0.20

p 2.0e-16

N 433,456

Major Consortium StudyLarge GWAS

European

high density lipoprotein cholesterol measurement

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

Allele A

OR 0.03

p 3.0e-12

N 394,642

Large GWAS

European

calcium measurement

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

Allele A

OR 0.05

p 4.0e-11

N 399,133

Large GWAS

multi-ancestry

Young WJ et al. “Genetically Determined Serum Calcium Levels and Markers of Ventricular Repolarization: A Mendelian Randomization Study in the UK Biobank.” Circulation. Genomic and Precision Medicine 14(3):e003231 (2021)

Allele A

OR 0.00

p 1.0e-10

N 305,349

Major Consortium StudyLarge GWAS

European

sex hormone-binding globulin measurement

Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)

Allele A

OR 0.01

p 3.0e-8

N 368,929

Large GWAS

European

hemoglobin measurement

Allele A

OR 0.05

p 5.0e-18

N 928,679

Large GWAS

multi-ancestry

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 A

OR —

p 1.0e-15

N 746,431

Large GWAS

multi-ancestry

Oskarsson GR et al. “Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.” Communications Biology 3(1):189 (2020)

Allele A

OR —

β 0.051

p 9.0e-14

N 684,122

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 A

OR 0.04

p 1.0e-13

N 502,921

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 A

OR 0.05

p 3.0e-15

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 A

OR 0.03

p 6.0e-12

N 394,642

Large GWAS

European

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ClinVar annotation

Likely Benign★★★☆

16 submitters7 publications

Autosomal recessive inherited pseudoxanthoma elasticum; not specified; not provided; Arterial calcification, generalized, of infancy, 2; Pseudoxanthoma elasticum, forme fruste; Autosomal recessive inherited pseudoxanthoma elasticum;Pseudoxanthoma elasticum, forme fruste;Arterial calcification, generalized, of infancy, 2

View on ClinVar →

About ABCC6

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]

rs41278174

GWAS Catalog Trait Associations (9)

erythrocyte count

red blood cell density

nephrolithiasis

hematocrit

bladder calculus

high density lipoprotein cholesterol measurement

calcium measurement

sex hormone-binding globulin measurement

hemoglobin measurement

ClinVar annotation

About ABCC6

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