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 | 0.040 | 6 | 118558946 | missense variant | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.040 | 6 | 118559037 | stop gained | T/G | snv | 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.040 | 6 | 118559037 | stop gained | T/G | snv | 1.6E-05 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.040 | 6 | 118559037 | stop gained | T/G | snv | 1.6E-05 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.040 | 6 | 118559037 | stop gained | T/G | snv | 1.6E-05 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 6 | 118558957 | inframe deletion | AGA/- | delins | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 6 | 118558982 | frameshift variant | -/TC | delins | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.040 | 6 | 118559037 | stop gained | T/G | snv | 1.6E-05 |
|
Cardiovascular Diseases | 0.710 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.925 | 0.040 | 6 | 118558946 | missense variant | C/T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.040 | 6 | 118559037 | stop gained | T/G | snv | 1.6E-05 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.807 | 0.040 | 6 | 118559037 | stop gained | T/G | snv | 1.6E-05 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.925 | 0.080 | 6 | 118558994 | missense variant | C/G;T | snv | 4.0E-06; 3.2E-05 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 6 | 118558994 | missense variant | C/G;T | snv | 4.0E-06; 3.2E-05 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 6 | 118558994 | missense variant | C/G;T | snv | 4.0E-06; 3.2E-05 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2015 | 2018 | |||||||
|
0.925 | 0.080 | 6 | 118558957 | inframe deletion | AGA/- | delins | 1.4E-05 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 3 | 2006 | 2013 | |||||||
|
0.925 | 0.040 | 6 | 118558946 | missense variant | C/T | snv |
|
Cardiovascular Diseases | 0.800 | 1.000 | 5 | 2003 | 2012 | ||||||||
|
0.925 | 0.080 | 6 | 118558957 | inframe deletion | AGA/- | delins | 1.4E-05 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 5 | 2006 | 2013 | |||||||
|
1.000 | 0.040 | 6 | 118558947 | missense variant | G/A | snv | 8.0E-06 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 5 | 2003 | 2012 | |||||||
|
0.807 | 0.040 | 6 | 118559037 | stop gained | T/G | snv | 1.6E-05 |
|
Cardiovascular Diseases | 0.710 | 0.833 | 6 | 2003 | 2013 | |||||||
|
0.807 | 0.040 | 6 | 118559037 | stop gained | T/G | snv | 1.6E-05 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 6 | 2003 | 2017 | |||||||
|
0.925 | 0.080 | 6 | 118558957 | inframe deletion | AGA/- | delins | 1.4E-05 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 7 | 2006 | 2012 | |||||||
|
0.925 | 0.040 | 6 | 118558946 | missense variant | C/T | snv |
|
Cardiovascular Diseases | 0.710 | 1.000 | 10 | 2003 | 2018 |