OPN1SW Chromosome 7
Opsin 1, short wave sensitive
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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
RS141305506
Conflicting classifications of pathogenicity
Blue color blindness, Blue color blindness
Health Risk
RS185373190
Conflicting classifications of pathogenicity
Health Risk
RS339041
Conflicting classifications of pathogenicity
Health Risk
RS777352208
Conflicting classifications of pathogenicity
Health Risk
RS778481357
Conflicting classifications of pathogenicity
Health Risk
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 | — |