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 | 7 | 128398560 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 7 | 128398431 | missense variant | C/T | snv | 4.8E-05 | 6.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||
|
0.882 | 0.080 | 7 | 128398562 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 7 | 128400120 | missense variant | A/C;G | snv | 4.0E-06 |
|
Eye Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 7 | 128398504 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.040 | 7 | 128400698 | non coding transcript exon variant | C/T | snv | 0.47 |
|
Immune System Diseases | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.040 | 7 | 128400698 | non coding transcript exon variant | C/T | snv | 0.47 |
|
Immune System Diseases | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.080 | 7 | 128400645 | non coding transcript exon variant | C/T | snv | 0.38 |
|
Immune System Diseases | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.827 | 0.120 | 7 | 128398557 | missense variant | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.040 | 1.000 | 4 | 2005 | 2006 | |||||||
|
0.851 | 0.120 | 7 | 128398543 | synonymous variant | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.851 | 0.120 | 7 | 128398543 | synonymous variant | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.851 | 0.120 | 7 | 128398543 | synonymous variant | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.851 | 0.120 | 7 | 128398543 | synonymous variant | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.040 | 7 | 128400124 | missense variant | G/C | snv | 7.0E-06 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 7 | 128398499 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.120 | 7 | 128398557 | missense variant | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.827 | 0.120 | 7 | 128398557 | missense variant | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.827 | 0.120 | 7 | 128398557 | missense variant | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.710 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.827 | 0.120 | 7 | 128398557 | missense variant | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.882 | 0.080 | 7 | 128398562 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.080 | 7 | 128398562 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.925 | 0.040 | 7 | 128400120 | missense variant | A/C;G | snv | 4.0E-06 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.080 | 7 | 128400887 | missense variant | A/G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 7 | 128398508 | missense variant | T/C | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.851 | 0.120 | 7 | 128396990 | missense variant | G/A;C;T | snv | 7.6E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 |