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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 | 23637668 | missense variant | G/C | snv | 7.0E-06 | 3.5E-05 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||||
|
20 | 23630722 | intron variant | C/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
20 | 23638015 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.790 | 0.200 | 20 | 23635330 | missense variant | A/T | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.090 | 1.000 | 9 | 1994 | 2018 | ||||||||
|
0.790 | 0.200 | 20 | 23635330 | missense variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.810 | 0.750 | 4 | 1989 | 2010 | ||||||||
|
0.790 | 0.200 | 20 | 23635330 | missense variant | A/T | snv |
|
Nutritional and Metabolic Diseases | 0.030 | 1.000 | 3 | 1994 | 2018 | ||||||||
|
0.790 | 0.200 | 20 | 23635330 | missense variant | A/T | snv |
|
Pathological Conditions, Signs and Symptoms | 0.020 | 1.000 | 2 | 2002 | 2004 | ||||||||
|
0.790 | 0.200 | 20 | 23635330 | missense variant | A/T | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2000 | 2008 | ||||||||
|
0.790 | 0.200 | 20 | 23635330 | missense variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.790 | 0.200 | 20 | 23635330 | missense variant | A/T | snv |
|
Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.790 | 0.200 | 20 | 23635330 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.790 | 0.200 | 20 | 23635330 | missense variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||||||
|
0.807 | 0.120 | 20 | 23632100 | non coding transcript exon variant | C/G;T | snv |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.120 | 20 | 23632100 | non coding transcript exon variant | C/G;T | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.807 | 0.120 | 20 | 23632100 | non coding transcript exon variant | C/G;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.120 | 20 | 23632100 | non coding transcript exon variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.807 | 0.120 | 20 | 23632100 | non coding transcript exon variant | C/G;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.120 | 20 | 23632100 | non coding transcript exon variant | C/G;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.120 | 20 | 23632100 | non coding transcript exon variant | C/G;T | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.807 | 0.120 | 20 | 23632100 | non coding transcript exon variant | C/G;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.120 | 20 | 23632100 | non coding transcript exon variant | C/G;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.200 | 20 | 23637790 | missense variant | C/G;T | snv | 0.20 |
|
Nervous System Diseases; Mental Disorders | 0.040 | 1.000 | 4 | 2006 | 2015 | |||||||
|
0.827 | 0.200 | 20 | 23637790 | missense variant | C/G;T | snv | 0.20 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.827 | 0.200 | 20 | 23637790 | missense variant | C/G;T | snv | 0.20 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.827 | 0.200 | 20 | 23637790 | missense variant | C/G;T | snv | 0.20 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 |