OPN1SW Chromosome 7

Opsin 1, short wave sensitive
5 variants 5 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
Opsin receptors
Locus Type
gene with protein product
Location
7q32.1
Ensembl
ENSG00000128617
Associated Conditions (1)
Blue color blindness
Key Variants
All Variants (5)
RSID Category Clinical Significance Conditions
RS141305506 Health Risk Conflicting classifications of pathogenicity Blue color blindness, Blue color blindness
RS185373190 Health Risk Conflicting classifications of pathogenicity
RS339041 Health Risk Conflicting classifications of pathogenicity
RS777352208 Health Risk Conflicting classifications of pathogenicity
RS778481357 Health Risk Conflicting classifications of pathogenicity
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