rs72653706

This is a stop gained variant in the ABCC6 gene.

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GWAS Catalog Trait Associations (1)

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

CD166 antigen 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 0.40
p 8.0e-14
N 47,745
Large GWAS
European
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ClinVar annotation

Pathogenic★★★☆
32 submitters55 publications

ABCC6-related disorder; Arterial calcification, generalized, of infancy, 2; Autosomal recessive inherited pseudoxanthoma elasticum (PXE); Cutis laxa; Papule; Pseudoxanthoma elasticum, forme fruste; See cases

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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