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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.360 | 1 | 169707345 | missense variant | A/G | snv | 0.21 | 0.22 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
1 | 169825364 | intron variant | A/G | snv | 1.4E-02 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.160 | 1 | 169691640 | 3 prime UTR variant | A/G | snv | 0.27 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
1 | 169689987 | intron variant | C/T | snv | 7.6E-03 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1 | 169712216 | intron variant | T/C | snv | 0.19 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.360 | 1 | 169704697 | missense variant | G/A;T | snv | 0.21; 3.2E-05 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.742 | 0.240 | 1 | 169726729 | missense variant | G/A | snv | 4.5E-02 | 3.3E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
0.742 | 0.240 | 1 | 169726729 | missense variant | G/A | snv | 4.5E-02 | 3.3E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.882 | 0.160 | 1 | 169727805 | missense variant | G/A | snv | 0.14 | 0.11 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 169719900 | intron variant | G/A | snv | 0.19 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||
|
0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.790 | 0.360 | 1 | 169704697 | missense variant | G/A;T | snv | 0.21; 3.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.732 | 0.360 | 1 | 169707345 | missense variant | A/G | snv | 0.21 | 0.22 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1.000 | 0.040 | 1 | 169731361 | intron variant | T/A;C;G | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 |