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 | 11 | 57602098 | frameshift variant | -/T | delins |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 11 | 57610852 | intron variant | C/T | snv | 0.39 |
|
Eye Diseases | 0.070 | 0.714 | 7 | 2008 | 2015 | |||||||
|
1.000 | 0.040 | 11 | 57599749 | intron variant | C/T | snv | 0.39 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.120 | 11 | 57606859 | intron variant | T/C | snv | 0.21 |
|
Eye Diseases | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.120 | 11 | 57602098 | frameshift variant | -/T | delins |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
11 | 57614553 | missense variant | T/C | snv | 4.0E-06 |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 11 | 57614474 | missense variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.030 | 1.000 | 3 | 1990 | 2015 | ||||||||
|
0.882 | 0.160 | 11 | 57614475 | missense variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 1992 | 2002 | ||||||||
|
0.925 | 0.120 | 11 | 57614472 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 11 | 57610852 | intron variant | C/T | snv | 0.39 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.160 | 11 | 57614475 | missense variant | G/A;C;T | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 17 | 1988 | 2018 | ||||||||
|
1.000 | 0.120 | 11 | 57600377 | missense variant | G/A | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 17 | 1988 | 2018 | ||||||||
|
0.882 | 0.160 | 11 | 57614474 | missense variant | C/A;T | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 17 | 1988 | 2018 | ||||||||
|
0.925 | 0.160 | 11 | 57614450 | missense variant | G/A | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 16 | 1988 | 2014 | ||||||||
|
0.925 | 0.160 | 11 | 57614439 | missense variant | T/A | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 16 | 1988 | 2014 | ||||||||
|
0.925 | 0.120 | 11 | 57614472 | missense variant | C/T | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 16 | 1988 | 2014 | ||||||||
|
1.000 | 0.120 | 11 | 57600288 | missense variant | A/G | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 16 | 1988 | 2014 | ||||||||
|
1.000 | 0.120 | 11 | 57600336 | missense variant | C/T | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 16 | 1988 | 2014 | ||||||||
|
1.000 | 0.120 | 11 | 57606013 | missense variant | T/C | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 16 | 1988 | 2014 | ||||||||
|
1.000 | 0.120 | 11 | 57606019 | missense variant | T/A | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 16 | 1988 | 2014 | ||||||||
|
1.000 | 0.120 | 11 | 57606413 | missense variant | T/C | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 16 | 1988 | 2014 | ||||||||
|
1.000 | 0.120 | 11 | 57614367 | missense variant | T/A | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 16 | 1988 | 2014 | ||||||||
|
1.000 | 0.120 | 11 | 57614400 | missense variant | T/C | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 16 | 1988 | 2014 | ||||||||
|
1.000 | 0.120 | 11 | 57614418 | missense variant | T/C | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 16 | 1988 | 2014 | ||||||||
|
1.000 | 0.120 | 11 | 57614496 | missense variant | T/G | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 16 | 1988 | 2014 |