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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 89932386 | intron variant | G/A | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
16 | 89928508 | intron variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.160 | 16 | 89920152 | stop gained | C/G;T | snv | 8.0E-06; 8.0E-06; 8.8E-05 | 1.4E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
16 | 89934974 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 10 | 2010 | 2016 | ||||||||||
|
16 | 89934974 | missense variant | G/C | snv |
|
0.700 | 1.000 | 10 | 2010 | 2016 | |||||||||||
|
0.790 | 0.280 | 16 | 89920138 | missense variant | G/A;C | snv | 4.0E-06; 9.1E-03 |
|
Neoplasms | 0.070 | 0.857 | 7 | 2001 | 2018 | |||||||
|
0.790 | 0.280 | 16 | 89920138 | missense variant | G/A;C | snv | 4.0E-06; 9.1E-03 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2000 | 2018 | |||||||
|
0.790 | 0.280 | 16 | 89920138 | missense variant | G/A;C | snv | 4.0E-06; 9.1E-03 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2002 | 2008 | |||||||
|
0.708 | 0.520 | 16 | 89935679 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||||||
|
0.708 | 0.520 | 16 | 89935679 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
1.000 | 16 | 89920123 | missense variant | T/C | snv | 5.6E-05 | 3.5E-05 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
0.925 | 0.080 | 16 | 89932649 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 16 | 89932649 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.790 | 0.280 | 16 | 89920138 | missense variant | G/A;C | snv | 4.0E-06; 9.1E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.790 | 0.280 | 16 | 89920138 | missense variant | G/A;C | snv | 4.0E-06; 9.1E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.790 | 0.280 | 16 | 89920138 | missense variant | G/A;C | snv | 4.0E-06; 9.1E-03 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.790 | 0.280 | 16 | 89920138 | missense variant | G/A;C | snv | 4.0E-06; 9.1E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.280 | 16 | 89920138 | missense variant | G/A;C | snv | 4.0E-06; 9.1E-03 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.160 | 16 | 89935235 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.160 | 16 | 89935355 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.160 | 16 | 89935700 | missense variant | G/A;C | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.160 | 16 | 89935700 | missense variant | G/A;C | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.708 | 0.520 | 16 | 89935679 | missense variant | G/A;C | snv |
|
Infections; Nervous System Diseases; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.708 | 0.520 | 16 | 89935679 | missense variant | G/A;C | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.708 | 0.520 | 16 | 89935679 | missense variant | G/A;C | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 |