rs2080303

This variant is located in the FLACC1 gene.

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GWAS Catalog Trait Associations (2)

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

skin neoplasm

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 0.14

p 3.0e-37

N 670,929

Large GWAS

multi-ancestry

basal cell carcinoma

Chahal HS et al. “Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.” Nature Communications 7:12510 (2016)

Allele T

OR 1.13

p 7.0e-19

N 275,209

Large GWAS

European

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Research that mentions this SNP (1)

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Functional Characterization of the Osteoarthritis Genetic Risk Residing at ALDH1A2 Identifies rs12915901 as a Key Target Variant

FunctionalN=247Colin Shepherd et al.(2018)· Arthritis & Rheumatology

Shepherd et al. characterized the functional basis of the ALDH1A2 genetic association with osteoarthritis, identifying rs12915901 as a key target variant that affects retinoic acid pathway function. Using RNA-seq, allelic expression imbalance analysis, ALDH1A2 knockdown, and transcription factor binding assays in chondrocytes and joint tissues, they demonstrate that the risk allele impairs ALDH1A2 expression and downstream retinoic acid signaling. The study links rs12915901 and related variants to altered chondrogenic gene expression patterns implicated in osteoarthritis pathogenesis.

Traits studied:Hand osteoarthritisHip osteoarthritisKnee osteoarthritisOsteoarthritis

PubMed DOI Metascience Observatory

About FLACC1

Predicted to be located in cytoplasmic vesicle and outer dense fiber. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]