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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.240 | 20 | 10658611 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 17 | 1997 | 2015 | ||||||||
|
1.000 | 0.120 | 20 | 10672702 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 14 | 1997 | 2013 | ||||||||
|
1.000 | 0.120 | 20 | 10658612 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 14 | 1997 | 2013 | ||||||||
|
1.000 | 0.120 | 20 | 10672978 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 14 | 1997 | 2013 | ||||||||
|
1.000 | 0.120 | 20 | 10672721 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 14 | 1997 | 2013 | ||||||||
|
1.000 | 0.120 | 20 | 10658674 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 14 | 1997 | 2013 | ||||||||
|
1.000 | 0.120 | 20 | 10641671 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 14 | 1997 | 2013 | ||||||||
|
1.000 | 0.120 | 20 | 10672991 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 14 | 1997 | 2013 | ||||||||
|
0.807 | 0.200 | 20 | 10652533 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.830 | 1.000 | 4 | 2001 | 2010 | ||||||||
|
1.000 | 0.120 | 20 | 10656450 | stop gained | G/A;C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 3 | 1998 | 2015 | |||||||
|
1.000 | 0.200 | 20 | 10656452 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 2 | 2002 | 2010 | ||||||||
|
1.000 | 0.120 | 20 | 10642587 | stop gained | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 1998 | 2015 | |||||||
|
1.000 | 0.120 | 20 | 10641155 | stop gained | G/A;T | snv | 2.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 1999 | 2015 | |||||||
|
0.925 | 0.120 | 20 | 10643807 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.800 | 1.000 | 2 | 2001 | 2010 | ||||||
|
1.000 | 0.120 | 20 | 10650325 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2000 | 2012 | ||||||||
|
1.000 | 0.120 | 20 | 10639738 | stop gained | A/C;G | snv | 0.65 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 20 | 10652589 | stop gained | G/A;C;T | snv | 0.46 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
20 | 10657738 | intron variant | A/T | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.120 | 20 | 10641566 | missense variant | C/A;T | snv | 1.6E-05; 1.9E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 20 | 10641566 | missense variant | C/A;T | snv | 1.6E-05; 1.9E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
20 | 10667031 | intron variant | A/G | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
20 | 10666023 | intron variant | T/G | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 20 | 10658895 | intron variant | G/A | snv | 0.46 |
|
Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 20 | 10658895 | intron variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 20 | 10658895 | intron variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2010 | 2010 |