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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 11 | 86951423 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 13 | 2002 | 2010 | ||||||||
|
0.925 | 0.080 | 11 | 86951990 | missense variant | T/C | snv | 5.1E-04 | 5.2E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 13 | 2002 | 2010 | ||||||
|
1.000 | 0.080 | 11 | 86952287 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 13 | 2002 | 2010 | ||||||||
|
1.000 | 0.080 | 11 | 86951732 | missense variant | T/C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 13 | 2002 | 2010 | |||||||
|
0.925 | 0.080 | 11 | 86951990 | missense variant | T/C | snv | 5.1E-04 | 5.2E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||
|
0.790 | 0.240 | 11 | 86952443 | missense variant | T/A;C | snv | 4.0E-06; 2.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 13 | 2002 | 2010 | |||||||
|
0.790 | 0.240 | 11 | 86952443 | missense variant | T/A;C | snv | 4.0E-06; 2.4E-05 |
|
0.700 | 1.000 | 7 | 2003 | 2016 | ||||||||
|
0.790 | 0.240 | 11 | 86952443 | missense variant | T/A;C | snv | 4.0E-06; 2.4E-05 |
|
Behavior and Behavior Mechanisms | 0.700 | 0 | ||||||||||
|
0.790 | 0.240 | 11 | 86952443 | missense variant | T/A;C | snv | 4.0E-06; 2.4E-05 |
|
Eye Diseases; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.790 | 0.240 | 11 | 86952443 | missense variant | T/A;C | snv | 4.0E-06; 2.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.790 | 0.240 | 11 | 86952443 | missense variant | T/A;C | snv | 4.0E-06; 2.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.790 | 0.240 | 11 | 86952443 | missense variant | T/A;C | snv | 4.0E-06; 2.4E-05 |
|
Eye Diseases | 0.700 | 0 | ||||||||||
|
0.790 | 0.240 | 11 | 86952443 | missense variant | T/A;C | snv | 4.0E-06; 2.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
0.790 | 0.240 | 11 | 86952443 | missense variant | T/A;C | snv | 4.0E-06; 2.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | ||||||||||
|
0.790 | 0.240 | 11 | 86952443 | missense variant | T/A;C | snv | 4.0E-06; 2.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 11 | 86951471 | frameshift variant | GTCT/- | delins | 8.0E-06 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 11 | 86951471 | frameshift variant | GTCT/- | delins | 8.0E-06 | 2.1E-05 |
|
Eye Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.160 | 11 | 86954909 | missense variant | G/T | snv | 3.6E-05 | 5.6E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||||
|
1.000 | 0.080 | 11 | 86951266 | missense variant | G/A;C | snv | 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 13 | 2002 | 2010 | |||||||
|
0.882 | 0.080 | 11 | 86954989 | missense variant | G/A | snv | 1.7E-02 | 1.3E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 13 | 2002 | 2010 | ||||||
|
0.925 | 0.080 | 11 | 86954881 | missense variant | G/A | snv | 5.2E-04 | 1.5E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 13 | 2002 | 2010 | ||||||
|
1.000 | 0.080 | 11 | 86952254 | missense variant | G/A | snv | 1.8E-02 | 1.4E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.020 | 1.000 | 2 | 2009 | 2018 | ||||||
|
0.882 | 0.080 | 11 | 86954989 | missense variant | G/A | snv | 1.7E-02 | 1.3E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.020 | 1.000 | 2 | 2009 | 2018 | ||||||
|
1.000 | 0.080 | 11 | 86952058 | missense variant | G/A | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.080 | 11 | 86954989 | missense variant | G/A | snv | 1.7E-02 | 1.3E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 |