RHO Chromosome 3
Rhodopsin
Upload your DNA to see your personal genotypes for variants in RHO.
What This Gene Does
The protein encoded by this gene is found in rod cells in the back of the eye and is essential for vision in low-light conditions. The encoded protein binds to 11-cis retinal and is activated when light hits the retinal molecule. Defects in this gene are a cause of congenital stationary night blindness. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
Opsin receptors
Locus Type
gene with protein product
Location
3q22.1
Ensembl
ENSG00000163914
Associated Conditions (23)
Retinitis pigmentosa 4
Retinal dystrophy
Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 1
RHO-related disorder
Retinal disorder
Pigmentary retinal dystrophy
See cases
Cone dystrophy 3
Autosomal dominant retinitis pigmentosa
Retinitis punctata albescens
11 conditions
Neuropathy
congenital hypomyelinating
2
Blurred vision
Peripheral visual field loss
Night blindness
Microcephaly 17
primary
+3 more conditions
Key Variants
RS104893779
Conflicting classifications of pathogenicity
Retinitis pigmentosa 4, Retinal dystrophy, Retinitis pigmentosa 4
Health Risk
RS1172673857
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS138831590
Conflicting classifications of pathogenicity
Congenital stationary night blindness autosomal dominant 1, Retinitis pigmentosa, RHO-related disorder
Health Risk
RS141185480
Conflicting classifications of pathogenicity
Congenital stationary night blindness autosomal dominant 1, Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 1
Health Risk
RS142322202
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinitis pigmentosa 4, Retinal disorder
Health Risk
RS1442262560
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS144317206
Conflicting classifications of pathogenicity
Pigmentary retinal dystrophy, Congenital stationary night blindness autosomal dominant 1, Retinitis pigmentosa 4
Health Risk
RS148222991
Conflicting classifications of pathogenicity
Congenital stationary night blindness autosomal dominant 1, Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 1
Health Risk
RS148748781
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS151063543
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 1, Retinitis pigmentosa
Health Risk
RS1553781360
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinitis pigmentosa 4, Retinal dystrophy
Health Risk
RS1578278300
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
All Variants (173)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104893793 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 4, Retinal dystrophy, Congenital stationary night blindness autosomal dominant 1 |
| RS121918590 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 4, Retinitis pigmentosa 4 |
| RS1236550448 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 4, Retinitis pigmentosa 4 |
| RS1402468701 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Congenital stationary night blindness autosomal dominant 1, Retinitis pigmentosa 4 |
| RS1415160298 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa 4, Retinal dystrophy |
| RS1424131846 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 4, RHO-related disorder, Retinitis pigmentosa 4 |
| RS1553781176 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa 4, Retinitis pigmentosa |
| RS1560046837 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 4, Retinal dystrophy, Retinitis pigmentosa 4 |
| RS1578281565 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 4, Retinal dystrophy, Retinitis pigmentosa 4 |
| RS200248198 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 4, Retinitis pigmentosa 4 |
| RS2084756915 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 4, Retinitis pigmentosa 4 |
| RS2084757329 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2084776162 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa 4, Retinal dystrophy |
| RS2084776365 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 4, Retinitis pigmentosa 4 |
| RS2084785435 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa 4, Retinal dystrophy |
| RS2084786704 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2084793009 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa 4, Retinitis pigmentosa |
| RS28933394 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 4, Retinal dystrophy, RHO-related disorder |
| RS527236100 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS768210562 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa 4, Retinal dystrophy |
| RS775557680 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 4, Retinitis pigmentosa, Retinal dystrophy |
| RS776014770 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 4, Retinitis pigmentosa, Retinitis pigmentosa 4 |
| RS984572250 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa 4, Congenital stationary night blindness autosomal dominant 1 |