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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 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 | ||||||||
|
0.925 | 0.080 | 3 | 129532722 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 20 | 1990 | 2009 | ||||||||
|
0.925 | 0.080 | 3 | 129532379 | missense variant | T/G | snv | 2.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 20 | 1990 | 2009 | |||||||
|
0.925 | 0.080 | 3 | 129528864 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 20 | 1990 | 2009 | ||||||
|
0.925 | 0.080 | 3 | 129533701 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 3 | 129528800 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 3 | 129532625 | inframe deletion | CTG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 3 | 129529058 | stop gained | G/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 3 | 129531023 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 3 | 129532258 | missense variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 3 | 129530922 | stop gained | C/A;T | snv | 6.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 3 | 129528786 | missense variant | G/A;C | snv | 8.0E-05; 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.080 | 3 | 129533711 | missense variant | C/A;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.080 | 3 | 129532282 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 3 | 129529035 | missense variant | G/A;T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 3 | 129532261 | missense variant | G/A;C | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 0 |