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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 7 | 101133986 | intron variant | T/C | snv | 0.44 |
|
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 7 | 101133650 | intron variant | G/A;T | snv | 0.41 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
7 | 101129564 | intron variant | G/A | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 101129564 | intron variant | G/A | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
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 | |||||||
|
0.633 | 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 | |||||||
|
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 | ||||||||
|
1.000 | 0.040 | 7 | 101133793 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
Infections | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.882 | 0.160 | 7 | 101128439 | missense variant | C/T | snv | 7.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||||
|
0.882 | 0.160 | 7 | 101128439 | missense variant | C/T | snv | 7.0E-06 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 |