| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 173232508 | 3 prime UTR variant | C/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.925 | 5 | 173232648 | missense variant | T/C | snv |
|
0.800 | 1.000 | 5 | 1998 | 2005 | ||||||||||
|
0.925 | 5 | 173232648 | missense variant | T/C | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 5 | 173232696 | missense variant | G/A;T | snv | 4.5E-05 |
|
0.700 | 1.000 | 2 | 2010 | 2011 | |||||||||
|
1.000 | 5 | 173232708 | missense variant | G/A | snv | 4.1E-06 |
|
0.700 | 1.000 | 5 | 1998 | 2005 | |||||||||
|
1.000 | 5 | 173232721 | missense variant | G/A;C;T | snv | 4.2E-06; 9.7E-05 |
|
0.700 | 1.000 | 5 | 1998 | 2005 | |||||||||
|
1.000 | 0.080 | 5 | 173232775 | missense variant | G/A;C;T | snv | 4.2E-06; 8.4E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.080 | 5 | 173232775 | missense variant | G/A;C;T | snv | 4.2E-06; 8.4E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.080 | 5 | 173232775 | missense variant | G/A;C;T | snv | 4.2E-06; 8.4E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 5 | 173232776 | stop gained | A/C;T | snv |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
1.000 | 5 | 173232776 | stop gained | A/C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
1.000 | 5 | 173232776 | stop gained | A/C;T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 5 | 173232792 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | ||||||||||||
|
1.000 | 5 | 173232792 | frameshift variant | T/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 5 | 173232816 | frameshift variant | ACGCCGTA/- | del |
|
0.700 | 0 | |||||||||||||
|
5 | 173232819 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||||
|
0.925 | 0.080 | 5 | 173232833 | stop gained | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 5 | 173232833 | stop gained | G/T | snv |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 5 | 173232833 | stop gained | G/T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 5 | 173232833 | stop gained | G/T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 5 | 173232868 | missense variant | C/T | snv | 4.3E-06 |
|
0.700 | 1.000 | 5 | 1998 | 2005 | |||||||||
|
0.925 | 0.080 | 5 | 173232888 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 5 | 1998 | 2005 | ||||||||
|
0.925 | 0.080 | 5 | 173232888 | missense variant | G/A | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 3 | 1999 | 2003 | |||||||
|
0.925 | 0.080 | 5 | 173232898 | missense variant | G/A | snv | 4.4E-06 |
|
0.700 | 1.000 | 5 | 1998 | 2005 | ||||||||
|
0.925 | 0.080 | 5 | 173232898 | missense variant | G/A | snv | 4.4E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.800 | 1.000 | 3 | 1999 | 2003 |