rs1799922

This is a synonymous variant in the OPN1SW gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (1)

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

odontogenesis

Fatemifar G et al. “Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.” Human Molecular Genetics 22(18):3807-17 (2013)

Allele T

OR 0.14

p 4.0e-9

N 11,513

Large GWAS

European

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ClinVar annotation

Benign★★★☆

4 submitters2 publications

Blue color blindness; OPN1SW-related disorder

View on ClinVar →

About OPN1SW

This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq, Jul 2008]

View all OPN1SW variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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