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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 19 | 18869231 | missense variant | C/A;T | snv | 2.1E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.800 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 19 | 18884128 | missense variant | G/A;C | snv | 4.9E-05 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 19 | 18878511 | 3 prime UTR variant | T/C | snv | 0.91 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 19 | 18868791 | missense variant | A/G | snv | 1.1E-03 | 1.1E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1.000 | 0.080 | 19 | 18868764 | missense variant | C/T | snv | 1.7E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
1.000 | 19 | 18893551 | stop gained | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.120 | 19 | 18868806 | frameshift variant | -/G | delins | 2.1E-04 | 2.2E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | 19 | 18868624 | inframe deletion | CAT/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 19 | 18868666 | frameshift variant | AGAA/- | delins | 5.4E-06; 6.5E-05 | 4.9E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.120 | 19 | 18868625 | missense variant | A/G | snv | 5.1E-04 | 2.7E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.800 | 1.000 | 2 | 2007 | 2017 | ||||||
|
0.925 | 0.120 | 19 | 18868625 | missense variant | A/G | snv | 5.1E-04 | 2.7E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
0.925 | 0.080 | 19 | 18868916 | missense variant | C/T | snv | 7.2E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.925 | 0.080 | 19 | 18896591 | 5 prime UTR variant | A/C | snv | 2.1E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 19 | 18896591 | 5 prime UTR variant | A/C | snv | 2.1E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 19 | 18896591 | 5 prime UTR variant | A/C | snv | 2.1E-03 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 19 | 18868916 | missense variant | C/T | snv | 7.2E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 19 | 18868625 | missense variant | A/G | snv | 5.1E-04 | 2.7E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
0.882 | 0.120 | 19 | 18869035 | stop gained | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.120 | 19 | 18869035 | stop gained | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 19 | 18869035 | stop gained | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.080 | 19 | 18869363 | missense variant | G/A | snv | 0.37 | 0.30 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.851 | 0.080 | 19 | 18869363 | missense variant | G/A | snv | 0.37 | 0.30 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.080 | 19 | 18869363 | missense variant | G/A | snv | 0.37 | 0.30 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.851 | 0.080 | 19 | 18869363 | missense variant | G/A | snv | 0.37 | 0.30 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.851 | 0.080 | 19 | 18869363 | missense variant | G/A | snv | 0.37 | 0.30 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 |