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 | 2 | 25161145 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
0.925 | 0.160 | 2 | 25161716 | missense variant | C/G;T | snv |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.160 | 2 | 25161716 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 2 | 25161145 | frameshift variant | T/- | del | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.925 | 0.120 | 2 | 25161244 | missense variant | T/C | snv | 5.4E-03 | 5.4E-03 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||||
|
0.925 | 0.120 | 2 | 25161244 | missense variant | T/C | snv | 5.4E-03 | 5.4E-03 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||||
|
1.000 | 0.120 | 2 | 25161480 | frameshift variant | -/CC | delins |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 2 | 25161452 | frameshift variant | G/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 25164664 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1.000 | 0.160 | 2 | 25161311 | missense variant | C/T | snv | 4.3E-06; 3.0E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
1.000 | 0.080 | 2 | 25161291 | synonymous variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.807 | 0.280 | 2 | 25161679 | missense variant | G/A | snv | 5.6E-06 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.807 | 0.280 | 2 | 25161679 | missense variant | G/A | snv | 5.6E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.807 | 0.280 | 2 | 25161679 | missense variant | G/A | snv | 5.6E-06 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.807 | 0.280 | 2 | 25161679 | missense variant | G/A | snv | 5.6E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.807 | 0.280 | 2 | 25161679 | missense variant | G/A | snv | 5.6E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.807 | 0.280 | 2 | 25161679 | missense variant | G/A | snv | 5.6E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.200 | 2 | 25161505 | missense variant | C/A;T | snv | 9.2E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.200 | 2 | 25161505 | missense variant | C/A;T | snv | 9.2E-06 |
|
Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 2 | 25164690 | missense variant | C/A;T | snv | 8.0E-06; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.020 | 1.000 | 2 | 2008 | 2018 | |||||||
|
1.000 | 0.080 | 2 | 25161526 | missense variant | C/A;T | snv | 5.1E-06 |
|
Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.120 | 2 | 25164783 | 5 prime UTR variant | G/T | snv | 2.8E-05 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||
|
0.925 | 2 | 25161329 | missense variant | G/A | snv | 8.8E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 2 | 25161329 | missense variant | G/A | snv | 8.8E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.925 | 0.120 | 2 | 25161569 | missense variant | C/T | snv | 2.5E-05 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 1998 | 1998 |