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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 90042763 | missense variant | G/A | snv | 2.2E-04 | 1.1E-04 |
|
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 8 | 90006279 | splice donor variant | T/A | snv | 8.6E-02 | 8.8E-02 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1.000 | 0.120 | 8 | 90036907 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.020 | 1.000 | 2 | 2004 | 2009 | ||||||||
|
0.925 | 0.120 | 8 | 90042781 | missense variant | C/T | snv | 5.5E-04 | 7.7E-05 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.925 | 0.120 | 8 | 90042781 | missense variant | C/T | snv | 5.5E-04 | 7.7E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.851 | 0.120 | 8 | 90020913 | missense variant | T/C | snv | 4.9E-06 |
|
Infections | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.120 | 8 | 90020913 | missense variant | T/C | snv | 4.9E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.120 | 8 | 90020913 | missense variant | T/C | snv | 4.9E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.120 | 8 | 90020913 | missense variant | T/C | snv | 4.9E-06 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.120 | 8 | 90020913 | missense variant | T/C | snv | 4.9E-06 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.120 | 8 | 90001503 | missense variant | C/T | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.120 | 8 | 90001503 | missense variant | C/T | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.827 | 0.240 | 8 | 90042766 | missense variant | T/C | snv | 1.4E-05 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.827 | 0.240 | 8 | 90042766 | missense variant | T/C | snv | 1.4E-05 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.827 | 0.240 | 8 | 90042766 | missense variant | T/C | snv | 1.4E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.827 | 0.240 | 8 | 90042766 | missense variant | T/C | snv | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chemically-Induced Disorders; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.827 | 0.240 | 8 | 90042766 | missense variant | T/C | snv | 1.4E-05 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.827 | 0.240 | 8 | 90042766 | missense variant | T/C | snv | 1.4E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.827 | 0.240 | 8 | 90042766 | missense variant | T/C | snv | 1.4E-05 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.827 | 0.240 | 8 | 90042766 | missense variant | T/C | snv | 1.4E-05 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.827 | 0.240 | 8 | 90042766 | missense variant | T/C | snv | 1.4E-05 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.925 | 0.240 | 8 | 90044993 | missense variant | G/A;C | snv | 4.5E-04; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.240 | 8 | 90044993 | missense variant | G/A;C | snv | 4.5E-04; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.240 | 8 | 90044993 | missense variant | G/A;C | snv | 4.5E-04; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 |