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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 18 | 22172215 | frameshift variant | G/- | delins |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 18 | 22172215 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.080 | 18 | 22181546 | missense variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.080 | 18 | 22181546 | missense variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 18 | 22181504 | missense variant | A/G | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.882 | 0.120 | 18 | 22181516 | missense variant | C/T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.882 | 0.120 | 18 | 22181516 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.120 | 18 | 22181516 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.120 | 18 | 22181517 | missense variant | G/A | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 18 | 22181549 | missense variant | G/A | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.807 | 0.160 | 18 | 22171856 | stop gained | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.807 | 0.160 | 18 | 22171856 | stop gained | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.807 | 0.160 | 18 | 22171856 | stop gained | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.807 | 0.160 | 18 | 22171856 | stop gained | G/T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.807 | 0.160 | 18 | 22171856 | stop gained | G/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.807 | 0.160 | 18 | 22171856 | stop gained | G/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.807 | 0.160 | 18 | 22171856 | stop gained | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 18 | 22171371 | missense variant | G/A;T | snv | 5.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.240 | 18 | 22171617 | missense variant | G/T | snv | 1.4E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.240 | 18 | 22171617 | missense variant | G/T | snv | 1.4E-05 |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.240 | 18 | 22171617 | missense variant | G/T | snv | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | 18 | 22172215 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 18 | 22181546 | missense variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 18 | 22181517 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 18 | 22181517 | missense variant | G/A | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 |