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 | 16 | 67165827 | missense variant | T/C | snv |
|
0.800 | 1.000 | 2 | 2002 | 2006 | ||||||||||
|
1.000 | 16 | 67164867 | missense variant | C/A | snv |
|
0.800 | 1.000 | 2 | 2002 | 2006 | ||||||||||
|
1.000 | 16 | 67165742 | missense variant | A/G | snv |
|
0.800 | 1.000 | 2 | 2002 | 2006 | ||||||||||
|
0.882 | 0.080 | 16 | 67165841 | missense variant | C/T | snv |
|
0.800 | 1.000 | 2 | 2002 | 2006 | |||||||||
|
16 | 67163235 | synonymous variant | C/T | snv | 1.0E-02 | 4.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 16 | 67164900 | frameshift variant | A/- | del |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 16 | 67169277 | splice acceptor variant | A/G | snv | 2.0E-05 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 16 | 67165838 | missense variant | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
0.882 | 0.080 | 16 | 67165841 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.080 | 16 | 67165833 | missense variant | G/A | snv | 3.3E-04 | 9.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||
|
0.882 | 0.080 | 16 | 67165841 | missense variant | C/T | snv |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.200 | 16 | 67169060 | stop gained | C/A;T | snv | 8.0E-06; 4.0E-06 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.827 | 0.080 | 16 | 67165833 | missense variant | G/A | snv | 3.3E-04 | 9.8E-05 |
|
Eye Diseases | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||
|
0.827 | 0.080 | 16 | 67165833 | missense variant | G/A | snv | 3.3E-04 | 9.8E-05 |
|
Eye Diseases | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||
|
0.827 | 0.080 | 16 | 67165833 | missense variant | G/A | snv | 3.3E-04 | 9.8E-05 |
|
Eye Diseases | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||
|
0.827 | 0.080 | 16 | 67165833 | missense variant | G/A | snv | 3.3E-04 | 9.8E-05 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.925 | 0.200 | 16 | 67169060 | stop gained | C/A;T | snv | 8.0E-06; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 |