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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.080 | 1 | 201359216 | stop gained | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 4 | 2003 | 2013 | ||||||||
|
0.851 | 0.080 | 1 | 201359216 | stop gained | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 4 | 2003 | 2013 | ||||||||
|
0.851 | 0.080 | 1 | 201359216 | stop gained | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 4 | 2003 | 2013 | ||||||||
|
0.851 | 0.080 | 1 | 201359216 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 4 | 2003 | 2013 | ||||||||
|
0.827 | 0.080 | 1 | 201359217 | stop gained | C/A;T | snv | 4.1E-06 | 7.0E-06 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 4 | 2003 | 2013 | ||||||
|
0.827 | 0.080 | 1 | 201359217 | stop gained | C/A;T | snv | 4.1E-06 | 7.0E-06 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 4 | 2003 | 2013 | ||||||
|
0.827 | 0.080 | 1 | 201359217 | stop gained | C/A;T | snv | 4.1E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 4 | 2003 | 2013 | ||||||
|
0.827 | 0.080 | 1 | 201359217 | stop gained | C/A;T | snv | 4.1E-06 | 7.0E-06 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 4 | 2003 | 2013 | ||||||
|
0.827 | 0.080 | 1 | 201359217 | stop gained | C/A;T | snv | 4.1E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.040 | 1 | 201359220 | missense variant | C/A;T | snv | 4.1E-06; 6.2E-05 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 1 | 201359221 | missense variant | G/A;T | snv | 2.5E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 14 | 1994 | 2012 | ||||||
|
0.851 | 0.080 | 1 | 201359244 | missense variant | C/G;T | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.800 | 1.000 | 19 | 1994 | 2014 | |||||||
|
0.851 | 0.080 | 1 | 201359244 | missense variant | C/G;T | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 8 | 1997 | 2015 | |||||||
|
0.851 | 0.080 | 1 | 201359244 | missense variant | C/G;T | snv | 1.2E-05 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 6 | 2003 | 2014 | |||||||
|
0.851 | 0.080 | 1 | 201359244 | missense variant | C/G;T | snv | 1.2E-05 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 6 | 2003 | 2014 | |||||||
|
0.851 | 0.080 | 1 | 201359244 | missense variant | C/G;T | snv | 1.2E-05 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.080 | 1 | 201359245 | missense variant | G/A | snv | 3.6E-04 | 4.3E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.800 | 1.000 | 13 | 1994 | 2012 | ||||||
|
0.851 | 0.080 | 1 | 201359245 | missense variant | G/A | snv | 3.6E-04 | 4.3E-04 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
0.851 | 0.080 | 1 | 201359245 | missense variant | G/A | snv | 3.6E-04 | 4.3E-04 |
|
Cardiovascular Diseases | 0.710 | 1.000 | 1 | 2003 | 2003 | ||||||
|
0.851 | 0.080 | 1 | 201359245 | missense variant | G/A | snv | 3.6E-04 | 4.3E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.080 | 1 | 201359622 | splice donor variant | C/A;G;T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 9 | 1994 | 2011 | ||||||||
|
0.925 | 0.080 | 1 | 201359622 | splice donor variant | C/A;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 1 | 201359623 | missense variant | A/G | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1 | 201359629 | frameshift variant | -/G | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
0.882 | 0.080 | 1 | 201359632 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 |