| 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 | 0.160 | 1 | 235766204 | missense variant | A/G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 2 | 2002 | 2014 | |||||||
|
1.000 | 0.160 | 1 | 235775041 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 1 | 235812976 | missense variant | G/C | snv | 1.2E-05 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.160 | 1 | 235664487 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.160 | 1 | 235806051 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases | 0.710 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
1.000 | 0.160 | 1 | 235766204 | missense variant | A/G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 1 | 235830299 | frameshift variant | -/C | delins | 8.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.160 | 1 | 235830299 | frameshift variant | -/C | delins | 8.4E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 1 | 235830270 | stop gained | G/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 1 | 235830270 | stop gained | G/A;C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.160 | 1 | 235809351 | frameshift variant | C/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 1 | 235809351 | frameshift variant | C/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | 1 | 235808916 | frameshift variant | T/-;TT | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | 1 | 235808916 | frameshift variant | T/-;TT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 1 | 235806513 | frameshift variant | A/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 1 | 235806513 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | 1 | 235806051 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | 1 | 235788701 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | 1 | 235788701 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 1 | 235716749 | frameshift variant | T/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 1 | 235716749 | frameshift variant | T/- | del |
|
0.700 | 0 | ||||||||||||
|
1 | 235806165 | missense variant | G/T | snv |
|
Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||||
|
1 | 235806165 | missense variant | G/T | snv |
|
Wounds and Injuries | 0.700 | 0 | |||||||||||||
|
1 | 235806165 | missense variant | G/T | snv |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | |||||||||||||
|
1.000 | 0.160 | 1 | 235805826 | stop gained | G/A | snv | 1.2E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases | 0.710 | 1.000 | 5 | 1996 | 2017 |