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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.724 | 0.240 | 5 | 136056780 | missense variant | C/T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.100 | 1.000 | 18 | 1998 | 2017 | |||||||
|
0.827 | 0.160 | 5 | 136056754 | missense variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.740 | 0.923 | 13 | 1998 | 2017 | ||||||||
|
0.851 | 0.160 | 5 | 136056769 | missense variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.720 | 0.909 | 11 | 1998 | 2014 | ||||||||
|
0.790 | 0.200 | 5 | 136060898 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 9 | 1998 | 2006 | ||||||||
|
0.724 | 0.240 | 5 | 136056780 | missense variant | C/T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.070 | 1.000 | 7 | 2000 | 2015 | |||||||
|
0.724 | 0.240 | 5 | 136056780 | missense variant | C/T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.850 | 1.000 | 6 | 2002 | 2019 | |||||||
|
0.925 | 0.160 | 5 | 136056697 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.740 | 1.000 | 4 | 2000 | 2010 | ||||||||
|
0.827 | 0.200 | 5 | 136060907 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.040 | 1.000 | 4 | 2003 | 2017 | ||||||||
|
0.763 | 0.160 | 5 | 136056781 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.040 | 1.000 | 4 | 2000 | 2007 | ||||||||
|
0.763 | 0.160 | 5 | 136056781 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.040 | 1.000 | 4 | 1998 | 2012 | ||||||||
|
0.763 | 0.160 | 5 | 136056781 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.840 | 1.000 | 4 | 2007 | 2012 | ||||||||
|
0.827 | 0.160 | 5 | 136056754 | missense variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases | 0.040 | 0.750 | 4 | 2004 | 2007 | ||||||||
|
0.827 | 0.160 | 5 | 136056754 | missense variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.040 | 1.000 | 4 | 2004 | 2017 | ||||||||
|
0.827 | 0.160 | 5 | 136056754 | missense variant | C/A | snv |
|
0.040 | 0.750 | 4 | 2004 | 2007 | |||||||||
|
0.925 | 0.160 | 5 | 136056697 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.030 | 1.000 | 3 | 2001 | 2010 | ||||||||
|
0.724 | 0.240 | 5 | 136056780 | missense variant | C/T | snv | 7.0E-06 |
|
0.030 | 1.000 | 3 | 2001 | 2003 | ||||||||
|
0.827 | 0.200 | 5 | 136060907 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.020 | 1.000 | 2 | 2002 | 2010 | ||||||||
|
0.724 | 0.240 | 5 | 136056780 | missense variant | C/T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.020 | 1.000 | 2 | 2005 | 2015 | |||||||
|
0.724 | 0.240 | 5 | 136056780 | missense variant | C/T | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.020 | 1.000 | 2 | 2003 | 2017 | |||||||
|
0.763 | 0.160 | 5 | 136056781 | missense variant | G/A | snv |
|
0.020 | 1.000 | 2 | 2007 | 2011 | |||||||||
|
0.763 | 0.160 | 5 | 136056781 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.020 | 1.000 | 2 | 2000 | 2012 | ||||||||
|
0.763 | 0.160 | 5 | 136056781 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
1.000 | 0.080 | 5 | 136056736 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 2 | 1998 | 2005 | ||||||||
|
0.790 | 0.200 | 5 | 136060898 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.020 | 1.000 | 2 | 2005 | 2009 | ||||||||
|
0.790 | 0.200 | 5 | 136060898 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.720 | 1.000 | 2 | 2001 | 2010 |