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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases | 0.030 | 1.000 | 3 | 2011 | 2019 | ||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
Cardiovascular Diseases | 0.030 | 0.667 | 3 | 2011 | 2019 | ||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
Eye Diseases | 0.030 | 0.667 | 3 | 2004 | 2013 | ||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
Eye Diseases | 0.030 | 0.667 | 3 | 2004 | 2013 | |||||||
|
0.851 | 0.240 | 7 | 95326216 | upstream gene variant | C/T | snv | 0.58 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 7 | 95306310 | missense variant | G/C | snv | 4.0E-06 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 7 | 95311484 | missense variant | T/C | snv | 4.2E-04 | 1.0E-04 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
Nervous System Diseases; Mental Disorders | 0.090 | 0.667 | 9 | 2003 | 2014 | ||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
Nervous System Diseases; Mental Disorders | 0.050 | 0.800 | 5 | 2008 | 2012 | |||||||
|
1.000 | 0.080 | 7 | 95324583 | upstream gene variant | G/A;C;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.030 | 1.000 | 3 | 2008 | 2019 | ||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.020 | 1.000 | 2 | 2009 | 2015 | |||||||
|
1.000 | 0.080 | 7 | 95318487 | non coding transcript exon variant | G/A | snv | 0.26 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
0.925 | 0.080 | 7 | 95308077 | missense variant | C/T | snv | 1.6E-05 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 |