RHO, rhodopsin, 6010
N. diseases: 178; N. variants: 71
Source: ALL
| Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.080 | 3 | 129528801 | missense variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 20 | 1990 | 2009 | ||||||||
|
0.807 | 0.160 | 3 | 129528783 | missense variant | C/T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 20 | 1990 | 2009 | |||||||
|
1.000 | 0.080 | 3 | 129528866 | missense variant | T/C | snv | 2.4E-05 | 6.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 20 | 1990 | 2009 | ||||||
|
1.000 | 0.080 | 3 | 129528993 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 20 | 1990 | 2009 | ||||||||
|
0.925 | 0.080 | 3 | 129528999 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 20 | 1990 | 2009 | ||||||||
|
0.882 | 0.080 | 3 | 129529049 | missense variant | G/A;T | snv | 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 20 | 1990 | 2009 | |||||||
|
0.925 | 0.080 | 3 | 129530918 | missense variant | G/A;T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 20 | 1990 | 2009 | |||||||
|
0.807 | 0.160 | 3 | 129530917 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 20 | 1990 | 2009 | ||||||||
|
0.925 | 0.080 | 3 | 129532253 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 20 | 1990 | 2009 | ||||||||
|
1.000 | 0.080 | 3 | 129532289 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 20 | 1990 | 2009 | ||||||||
|
0.851 | 0.080 | 3 | 129532288 | missense variant | G/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 20 | 1990 | 2009 | |||||||
|
1.000 | 0.080 | 3 | 129532264 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 20 | 1990 | 2009 | ||||||||
|
0.882 | 0.080 | 3 | 129532636 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 20 | 1990 | 2009 | ||||||||
|
0.882 | 0.080 | 3 | 129532340 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 20 | 1990 | 2009 | ||||||||
|
0.882 | 0.080 | 3 | 129528777 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 20 | 1990 | 2009 | ||||||||
|
0.882 | 0.080 | 3 | 129529062 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 20 | 1990 | 2009 | ||||||||
|
0.925 | 0.080 | 3 | 129529074 | missense variant | G/A;C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 20 | 1990 | 2009 | |||||||
|
1.000 | 0.080 | 3 | 129528884 | missense variant | G/C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 20 | 1990 | 2009 | ||||||||
|
0.851 | 0.080 | 3 | 129531005 | missense variant | C/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 20 | 1990 | 2009 | |||||||
|
0.925 | 0.080 | 3 | 129531025 | missense variant | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 20 | 1990 | 2009 | |||||||
|
1.000 | 0.080 | 3 | 129533704 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 20 | 1990 | 2009 | ||||||||
|
0.882 | 0.080 | 3 | 129528906 | missense variant | C/G;T | snv | 9.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 20 | 1990 | 2009 | |||||||
|
0.925 | 0.080 | 3 | 129528891 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 20 | 1990 | 2009 | ||||||||
|
1.000 | 0.080 | 3 | 129532352 | missense variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 20 | 1990 | 2009 | ||||||||
|
1.000 | 0.080 | 3 | 129533710 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 20 | 1990 | 2009 |