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 | 0.120 | 3 | 97791797 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.800 | 1.000 | 3 | 2004 | 2013 | ||||||
|
1.000 | 0.120 | 3 | 97768199 | missense variant | C/G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.800 | 1.000 | 3 | 2004 | 2013 | |||||||
|
1.000 | 0.120 | 3 | 97791800 | missense variant | T/C;G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.800 | 1.000 | 3 | 2004 | 2013 | |||||||
|
1.000 | 3 | 97784966 | missense variant | C/G;T | snv | 5.2E-05 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.120 | 3 | 97780221 | splice donor variant | G/C | snv |
|
0.700 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.925 | 0.120 | 3 | 97780221 | splice donor variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.882 | 0.120 | 3 | 97784981 | missense variant | T/C | snv | 3.2E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.925 | 0.120 | 3 | 97788004 | stop gained | C/T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 3 | 97788004 | stop gained | C/T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 3 | 97791797 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 3 | 97787991 | frameshift variant | TAT/GAAAA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 3 | 97787991 | frameshift variant | TAT/GAAAA | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 3 | 97787991 | frameshift variant | TAT/GAAAA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 3 | 97787991 | frameshift variant | TAT/GAAAA | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 3 | 97787991 | frameshift variant | TAT/GAAAA | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 3 | 97787991 | frameshift variant | TAT/GAAAA | delins |
|
Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 3 | 97787991 | frameshift variant | TAT/GAAAA | delins |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 3 | 97787991 | frameshift variant | TAT/GAAAA | delins |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 3 | 97787991 | frameshift variant | TAT/GAAAA | delins |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 3 | 97784981 | missense variant | T/C | snv | 3.2E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.320 | 3 | 97780679 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.925 | 0.320 | 3 | 97780679 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.882 | 0.120 | 3 | 97784981 | missense variant | T/C | snv | 3.2E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 |