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 | 10657738 | intron variant | A/T | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
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 | ||||||||||
|
20 | 10659340 | intron variant | T/C | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
20 | 10659340 | intron variant | T/C | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
20 | 10660229 | intron variant | A/G | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
20 | 10663202 | intron variant | A/C;T | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
20 | 10638366 | 3 prime UTR variant | A/C | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 20 | 10663962 | splice donor variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
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 | |||||||
|
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 | ||||||||
|
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 | ||||||||
|
0.925 | 0.120 | 20 | 10645245 | frameshift variant | ACTG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 5 | 1997 | 2015 | ||||||||
|
1.000 | 0.120 | 20 | 10640815 | frameshift variant | ACTT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 4 | 1999 | 2016 | ||||||||
|
0.925 | 0.120 | 20 | 10645245 | frameshift variant | ACTG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 4 | 1997 | 2005 | ||||||||
|
0.925 | 0.120 | 20 | 10645245 | frameshift variant | ACTG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 4 | 1997 | 2005 | ||||||||
|
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 |