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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.120 | 1 | 201365297 | missense variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.800 | 1.000 | 29 | 1994 | 2015 | ||||||||
|
0.827 | 0.080 | 1 | 201365298 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.800 | 1.000 | 22 | 1994 | 2016 | ||||||
|
0.851 | 0.080 | 1 | 201365638 | missense variant | A/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.800 | 1.000 | 21 | 1994 | 2013 | |||||||
|
0.851 | 0.080 | 1 | 201365291 | missense variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.800 | 1.000 | 20 | 1991 | 2017 | ||||||||
|
0.851 | 0.080 | 1 | 201364369 | missense variant | G/A | snv | 1.4E-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 | 0.800 | 1.000 | 19 | 1994 | 2014 | |||||||
|
0.827 | 0.080 | 1 | 201364336 | missense variant | G/A;T | snv | 1.2E-04 |
|
Cardiovascular Diseases | 0.800 | 1.000 | 17 | 2000 | 2017 | |||||||
|
0.807 | 0.120 | 1 | 201365244 | missense variant | A/C;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.800 | 1.000 | 14 | 1994 | 2012 | ||||||||
|
0.851 | 0.080 | 1 | 201364366 | missense variant | G/A;C | snv |
|
Cardiovascular Diseases | 0.800 | 1.000 | 14 | 2000 | 2017 | ||||||||
|
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 | ||||||
|
0.882 | 0.080 | 1 | 201361988 | missense variant | C/A;G;T | snv |
|
Cardiovascular Diseases | 0.800 | 1.000 | 9 | 2000 | 2017 | ||||||||
|
0.851 | 0.080 | 1 | 201365261 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.800 | 1.000 | 6 | 1997 | 2017 | ||||||
|
0.827 | 0.080 | 1 | 201363330 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.800 | 1.000 | 4 | 2000 | 2017 | ||||||||
|
0.851 | 0.040 | 1 | 201376359 | intron variant | G/A | snv | 0.27 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.080 | 1 | 201359632 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.120 | 1 | 201365297 | missense variant | C/A;T | snv |
|
Cardiovascular Diseases | 0.730 | 1.000 | 18 | 1994 | 2020 | ||||||||
|
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 | ||||||||
|
0.827 | 0.080 | 1 | 201365298 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 |
|
Cardiovascular Diseases | 0.710 | 1.000 | 22 | 1996 | 2016 | ||||||
|
0.851 | 0.080 | 1 | 201365291 | missense variant | C/A;T | snv |
|
Cardiovascular Diseases | 0.710 | 1.000 | 12 | 1999 | 2017 | ||||||||
|
0.827 | 0.080 | 1 | 201363330 | missense variant | G/A | snv |
|
Cardiovascular Diseases | 0.710 | 1.000 | 3 | 2000 | 2004 | ||||||||
|
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 | 201365261 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.710 | 1.000 | 1 | 1997 | 1997 | ||||||
|
0.807 | 0.120 | 1 | 201365297 | missense variant | C/A;T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 18 | 1994 | 2015 | ||||||||
|
0.807 | 0.120 | 1 | 201365297 | missense variant | C/A;T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 18 | 1994 | 2015 |