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 |
|
Cardiovascular Diseases | 0.020 | 0.500 | 2 | 2014 | 2018 | |||||||
|
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 | ||||||||
|
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 | |||||||
|
0.882 | 0.160 | 7 | 101128439 | missense variant | C/T | snv | 7.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.882 | 0.160 | 7 | 101128439 | missense variant | C/T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.080 | 7 | 101137405 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
7 | 101135780 | frameshift variant | A/- | del |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||||
|
0.807 | 0.360 | 7 | 101126425 | upstream gene variant | -/A;C | ins |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.360 | 7 | 101126425 | upstream gene variant | -/A;C | ins |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.360 | 7 | 101126425 | upstream gene variant | -/A;C | ins |
|
Pathological Conditions, Signs and Symptoms; Infections | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.360 | 7 | 101126425 | upstream gene variant | -/A;C | ins |
|
Pathological Conditions, Signs and Symptoms; Infections | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.360 | 7 | 101126425 | upstream gene variant | -/A;C | ins |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.807 | 0.360 | 7 | 101126425 | upstream gene variant | -/A;C | ins |
|
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv |
|
Infections; Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv |
|
Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv |
|
Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 |