| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 136053744 | intron variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 136060763 | intron variant | A/G | snv | 0.57 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
5 | 136057449 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
5 | 136032068 | intron variant | C/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 5 | 136056715 | missense variant | G/A;T | snv | 1.6E-05; 1.6E-05 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
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 | ||||||||
|
1.000 | 0.080 | 5 | 136046429 | missense variant | G/T | snv | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 5 | 136046403 | missense variant | G/C | snv | 1.3E-04 | 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
0.925 | 0.080 | 5 | 136046373 | missense variant | G/A;T | snv | 1.5E-04; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.080 | 5 | 136046373 | missense variant | G/A;T | snv | 1.5E-04; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.080 | 5 | 136053080 | missense variant | G/A;T | snv | 1.2E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 5 | 136053080 | missense variant | G/A;T | snv | 1.2E-05; 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.120 | 5 | 136062674 | missense variant | G/A;C | snv | 1.2E-03 |
|
Eye Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.120 | 5 | 136055773 | missense variant | A/G;T | snv | 1.9E-03; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
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 | ||||||||
|
0.807 | 0.160 | 5 | 136055770 | missense variant | C/A;G;T | snv | 3.2E-04; 3.2E-05; 3.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 7 | 1998 | 2016 | |||||||
|
0.807 | 0.160 | 5 | 136055770 | missense variant | C/A;G;T | snv | 3.2E-04; 3.2E-05; 3.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.830 | 0.800 | 5 | 1998 | 2011 | |||||||
|
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 | ||||||||
|
0.763 | 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 |