RHO
rhodopsin
Summary
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]
Known Variants435 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1458486943 | 3:129,244,630 | C/T | — | uncertain significance |
| rs2269736 | 3:129,247,526 | G/A | 5 prime UTR variant | benign |
| rs7984 | 3:129,247,551 | A/G | 5 prime UTR variant | benign |
| rs771188148 | 3:129,247,553 | G/T | — | uncertain significance |
| rs1426348071 | 3:129,247,577 | A/G | — | uncertain significance |
| rs972605266 | 3:129,247,584 | G/A | — | uncertain significance |
| rs2108749120 | 3:129,247,585 | C/T | — | likely benign |
| rs2533019344 | 3:129,247,587 | C/A | — | uncertain significance |
| rs144270441 | 3:129,247,590 | A/G | — | uncertain significance |
| rs145024369 | 3:129,247,592 | G/A | — | uncertain significance |
| rs2108749130 | 3:129,247,601 | T/G | — | uncertain significance |
| rs1361105199 | 3:129,247,603 | C/A | — | uncertain significance |
| rs138142023 | 3:129,247,606 | C/T | — | benign |
| rs1251088622 | 3:129,247,607 | G/A | — | uncertain significance |
| rs1198077854 | 3:129,247,611 | C/G | — | uncertain significance |
| rs2533019429 | 3:129,247,614 | T/C | — | uncertain significance |
| rs2533019441 | 3:129,247,619 | A/G | — | uncertain significance |
| rs104893786 | 3:129,247,620 | A/G | missense variant | pathogenic |
| rs1578278088 | 3:129,247,621 | T/G | — | pathogenic |
| rs201340914 | 3:129,247,623 | C/T | — | uncertain significance |
| rs766112074 | 3:129,247,624 | G/A | — | conflicting classifications of pathogenicity |
| rs104893769 | 3:129,247,626 | C/A | missense variant | pathogenic |
| rs753585848 | 3:129,247,627 | G/C | — | likely benign |
| rs200946638 | 3:129,247,629 | G/A | — | conflicting classifications of pathogenicity |
| rs370401948 | 3:129,247,634 | G/A | — | uncertain significance |
| rs552455660 | 3:129,247,638 | G/A | — | conflicting classifications of pathogenicity |
| rs749567084 | 3:129,247,642 | C/A | — | uncertain significance |
| rs104893797 | 3:129,247,643 | C/G | missense variant | pathogenic |
| rs104893768 | 3:129,247,644 | C/T | missense variant | pathogenic |
| rs2533019513 | 3:129,247,647 | T/G | — | uncertain significance |
| rs768877243 | 3:129,247,648 | C/G | — | uncertain significance |
| rs774425557 | 3:129,247,649 | G/A | — | uncertain significance |
| rs2108749182 | 3:129,247,658 | C/A | — | uncertain significance |
| rs1553780837 | 3:129,247,659 | A/G | — | pathogenic |
| rs2108749184 | 3:129,247,660 | G/T | — | pathogenic |
| rs2084756646 | 3:129,247,662 | A/G | — | uncertain significance |
| rs149084537 | 3:129,247,663 | C/T | — | uncertain significance |
| rs2533019562 | 3:129,247,668 | T/C | — | uncertain significance |
| rs2084756721 | 3:129,247,670 | G/C | — | uncertain significance |
| rs1232548343 | 3:129,247,675 | G/C | — | uncertain significance |
| rs2108749194 | 3:129,247,677 | C/T | — | uncertain significance |
| rs1186151173 | 3:129,247,678 | A/G | — | likely benign |
| rs1259844494 | 3:129,247,679 | T/C | — | uncertain significance |
| rs760515764 | 3:129,247,682 | C/T | — | pathogenic |
| rs776411064 | 3:129,247,691 | A/G | — | uncertain significance |
| rs2084756915 | 3:129,247,692 | T/G | — | pathogenic |
| rs927794488 | 3:129,247,697 | G/A | — | uncertain significance |
| rs781550757 | 3:129,247,699 | C/T | — | likely benign |
| rs538820015 | 3:129,247,700 | G/A | — | conflicting classifications of pathogenicity |
| rs748429090 | 3:129,247,704 | A/G | — | uncertain significance |
| rs1287941897 | 3:129,247,706 | A/C | — | uncertain significance |
| rs774336493 | 3:129,247,707 | T/C | — | likely pathogenic |
| rs104893770 | 3:129,247,709 | T/C | missense variant | pathogenic |
| rs2084757073 | 3:129,247,713 | T/G | — | pathogenic |
| rs756454203 | 3:129,247,720 | C/T | — | likely benign |
| rs534819675 | 3:129,247,721 | G/A | — | uncertain significance |
| rs104893792 | 3:129,247,727 | G/C | missense variant | pathogenic |
| rs149079952 | 3:129,247,728 | G/T | — | pathogenic |
| rs28933395 | 3:129,247,734 | C/G | missense variant | pathogenic |
| rs1312862210 | 3:129,247,741 | C/A | — | pathogenic |
| rs28933394 | 3:129,247,749 | C/T | missense variant | uncertain significance |
| rs112640710 | 3:129,247,750 | G/A | — | likely benign |
| rs777849735 | 3:129,247,751 | C/T | — | uncertain significance |
| rs2108749238 | 3:129,247,752 | T/A | — | pathogenic |
| rs747002188 | 3:129,247,753 | C/G | — | benign |
| rs771007146 | 3:129,247,754 | T/C | — | uncertain significance |
| rs527236101 | 3:129,247,756 | C/A | stop gained | pathogenic |
| rs769464362 | 3:129,247,761 | C/A | — | uncertain significance |
| rs367909246 | 3:129,247,762 | C/T | — | likely benign |
| rs146936681 | 3:129,247,763 | G/A | — | uncertain significance |
| rs2084757596 | 3:129,247,766 | C/T | — | pathogenic |
| rs2084757607 | 3:129,247,770 | A/T | — | uncertain significance |
| rs2108749253 | 3:129,247,772 | A/T | — | pathogenic |
| rs137883686 | 3:129,247,779 | T/G | — | uncertain significance |
| rs761101263 | 3:129,247,781 | C/T | — | uncertain significance |
| rs143559914 | 3:129,247,785 | C/T | — | uncertain significance |
| rs1305158106 | 3:129,247,787 | C/T | — | uncertain significance |
| rs779169631 | 3:129,247,794 | A/G | — | pathogenic |
| rs374902462 | 3:129,247,795 | C/A | — | uncertain significance |
| rs367633279 | 3:129,247,799 | A/G | — | uncertain significance |
| rs2533019904 | 3:129,247,802 | C/T | — | uncertain significance |
| rs1405507439 | 3:129,247,805 | C/T | — | uncertain significance |
| rs1248203737 | 3:129,247,808 | A/T | — | likely pathogenic |
| rs1578278300 | 3:129,247,809 | A/T | — | conflicting classifications of pathogenicity |
| rs2108749273 | 3:129,247,813 | A/C | — | likely benign |
| rs1176212506 | 3:129,247,814 | G/T | — | uncertain significance |
| rs770941561 | 3:129,247,816 | C/T | — | likely benign |
| rs745643650 | 3:129,247,818 | T/C | — | uncertain significance |
| rs2084758349 | 3:129,247,819 | G/A | — | likely benign |
| rs2108749285 | 3:129,247,827 | T/C | — | pathogenic |
| rs2533020015 | 3:129,247,835 | G/T | — | likely pathogenic |
| rs104893771 | 3:129,247,836 | T/A | missense variant | pathogenic |
| rs1057521112 | 3:129,247,839 | T/C | missense variant | pathogenic |
| rs1578278354 | 3:129,247,841 | G/C | — | likely pathogenic |
| rs104893772 | 3:129,247,842 | G/A | missense variant | pathogenic |
| rs762451457 | 3:129,247,843 | T/C | — | likely benign |
| rs104893790 | 3:129,247,845 | G/A | missense variant | pathogenic |
| rs2533020094 | 3:129,247,849 | C/T | — | uncertain significance |
| rs768298431 | 3:129,247,850 | A/G | — | uncertain significance |
| rs2533020120 | 3:129,247,853 | A/C | — | uncertain significance |
Showing 100 of 435 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.