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 | 0.080 | 12 | 6846892 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 12 | 6843042 | inframe deletion | AGA/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 12 | 6843073 | missense variant | C/T | snv | 2.8E-05 |
|
0.800 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | 12 | 6845700 | missense variant | G/A | snv | 4.8E-02 | 4.6E-02 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1.000 | 0.080 | 12 | 6839304 | missense variant | T/C | snv | 0.36 | 0.36 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1.000 | 0.040 | 12 | 6843683 | missense variant | C/T | snv | 7.0E-06 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 12 | 6845700 | missense variant | G/A | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 12 | 6845460 | 3 prime UTR variant | G/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 12 | 6845460 | 3 prime UTR variant | G/A;T | snv |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 12 | 6845460 | 3 prime UTR variant | G/A;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
12 | 6839735 | 3 prime UTR variant | A/G | snv | 0.56 |
|
Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.120 | 12 | 6845700 | missense variant | G/A | snv | 4.8E-02 | 4.6E-02 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
Chemically-Induced Disorders; Mental Disorders | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
0.010 | 1.000 | 1 | 2010 | 2010 |