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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.200 | 6 | 43772941 | intron variant | T/A;C | snv |
|
Eye Diseases | 0.040 | 1.000 | 4 | 2012 | 2014 | ||||||||
|
0.882 | 0.200 | 6 | 43772941 | intron variant | T/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.200 | 6 | 43772941 | intron variant | T/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.040 | 1.000 | 4 | 2005 | 2018 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.030 | 1.000 | 3 | 2007 | 2017 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Female Urogenital Diseases and Pregnancy Complications | 0.030 | 1.000 | 3 | 2009 | 2017 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.030 | 1.000 | 3 | 2008 | 2012 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.030 | 1.000 | 3 | 2007 | 2017 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.030 | 1.000 | 3 | 2008 | 2012 | ||||||||
|
0.882 | 0.080 | 6 | 43774362 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms | 0.030 | 1.000 | 3 | 2002 | 2011 | ||||||
|
6 | 43770833 | missense variant | G/A | snv | 1.6E-05 |
|
Neoplasms | 0.020 | 1.000 | 2 | 2015 | 2015 | |||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.020 | 1.000 | 2 | 2011 | 2014 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Nervous System Diseases; Cardiovascular Diseases | 0.020 | < 0.001 | 2 | 2016 | 2019 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 0.500 | 2 | 2011 | 2014 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.020 | 0.500 | 2 | 2010 | 2017 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 0.500 | 2 | 2011 | 2014 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Nervous System Diseases; Mental Disorders | 0.020 | 0.500 | 2 | 2010 | 2013 | ||||||||
|
0.851 | 0.240 | 6 | 43781990 | missense variant | T/G | snv | 7.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.851 | 0.240 | 6 | 43781990 | missense variant | T/G | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.240 | 6 | 43781990 | missense variant | T/G | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.851 | 0.240 | 6 | 43781990 | missense variant | T/G | snv | 7.0E-06 |
|
Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
6 | 43771130 | missense variant | G/T | snv | 2.1E-05 |
|
Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
6 | 43771130 | missense variant | G/T | snv | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 |