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 | 0.040 | 1 | 201376359 | intron variant | G/A | snv | 0.27 |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.851 | 0.040 | 1 | 201376359 | intron variant | G/A | snv | 0.27 |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
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 | ||||||||
|
0.851 | 0.040 | 1 | 201376359 | intron variant | G/A | snv | 0.27 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1 | 201373987 | non coding transcript exon variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1 | 201365657 | missense variant | T/C;G | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.807 | 0.120 | 1 | 201365297 | missense variant | C/A;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 1 | 201359632 | missense variant | T/A | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.080 | 1 | 201359244 | missense variant | C/G;T | snv | 1.2E-05 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.827 | 0.080 | 1 | 201361989 | missense variant | G/A;T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
1 | 201359629 | frameshift variant | -/G | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
0.882 | 0.080 | 1 | 201361971 | inframe deletion | CTT/- | delins |
|
Cardiovascular Diseases | 0.700 | 1.000 | 15 | 2000 | 2019 | ||||||||
|
0.827 | 0.080 | 1 | 201364336 | missense variant | G/A;T | snv | 1.2E-04 |
|
Cardiovascular Diseases | 0.720 | 1.000 | 13 | 2001 | 2016 | |||||||
|
0.851 | 0.080 | 1 | 201364366 | missense variant | G/A;C | snv |
|
Cardiovascular Diseases | 0.720 | 1.000 | 8 | 2003 | 2016 | ||||||||
|
0.851 | 0.080 | 1 | 201363349 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 5 | 2012 | 2013 | |||||||
|
1 | 201364365 | missense variant | C/G;T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 4 | 2004 | 2014 | ||||||||||
|
0.882 | 0.080 | 1 | 201363348 | missense variant | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 4 | 2010 | 2017 | ||||||||
|
1 | 201364357 | missense variant | G/A;C;T | snv | 4.0E-06; 2.0E-05 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2008 | 2009 | |||||||||
|
1 | 201364327 | missense variant | G/A | snv | 3.2E-05 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2014 | 2016 | |||||||||
|
1 | 201363352 | missense variant | C/A | snv | 8.0E-06 | 2.1E-05 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1 | 201365610 | missense variant | A/C | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
1 | 201365220 | missense variant | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
0.827 | 0.080 | 1 | 201361989 | missense variant | G/A;T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
1 | 201365247 | missense variant | GA/AC | mnv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
0.807 | 0.120 | 1 | 201365297 | missense variant | C/A;T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 18 | 1994 | 2015 |