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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.060 | 0.833 | 6 | 2006 | 2018 | |||||||
|
0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.040 | 0.750 | 4 | 2006 | 2015 | |||||||
|
0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2003 | 2012 | |||||||
|
0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 |
|
Hemic and Lymphatic Diseases | 0.030 | 1.000 | 3 | 2005 | 2009 | |||||||
|
0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.030 | 0.667 | 3 | 2003 | 2014 | |||||||
|
0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2014 | 2019 | |||||||
|
0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv |
|
Nervous System Diseases; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2006 | 2018 | ||||||||
|
0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||||||
|
0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 |
|
0.020 | < 0.001 | 2 | 2011 | 2014 | ||||||||
|
0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.020 | 1.000 | 2 | 2005 | 2009 | |||||||
|
0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||||
|
0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.020 | 1.000 | 2 | 2007 | 2019 | |||||||
|
0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.020 | 0.500 | 2 | 2007 | 2017 | |||||||
|
0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 |
|
Eye Diseases; Cardiovascular Diseases | 0.020 | 0.500 | 2 | 2013 | 2015 | |||||||
|
0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.020 | 1.000 | 2 | 1997 | 2009 | |||||||
|
0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2005 | 2014 | |||||||
|
0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.020 | 0.500 | 2 | 2014 | 2018 | |||||||
|
1.000 | 0.040 | 7 | 101132065 | splice donor variant | -/TA | delins | 4.0E-06 |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 1992 | 1992 | |||||||
|
1.000 | 0.080 | 7 | 101137084 | splice donor variant | G/- | delins | 4.0E-06 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.200 | 7 | 101131931 | missense variant | C/A;G;T | snv |
|
Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.882 | 0.200 | 7 | 101131931 | missense variant | C/A;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.882 | 0.200 | 7 | 101131931 | missense variant | C/A;G;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
7 | 101135780 | frameshift variant | A/- | del |
|
0.010 | 1.000 | 1 | 2004 | 2004 |