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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 1 | 7901146 | intergenic variant | C/G;T | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1 | 7890788 | intergenic variant | C/T | snv | 4.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.040 | 1 | 7896513 | intergenic variant | A/G | snv | 7.3E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 1 | 7896513 | intergenic variant | A/G | snv | 7.3E-02 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 1 | 7857016 | upstream gene variant | G/A | snv | 0.41 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.776 | 0.360 | 1 | 7853370 | missense variant | G/A | snv | 0.51 | 0.52 |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||||
|
0.776 | 0.360 | 1 | 7853370 | missense variant | G/A | snv | 0.51 | 0.52 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2012 | 2018 | ||||||
|
0.732 | 0.440 | 1 | 7849677 | missense variant | C/T | snv | 8.7E-02 | 5.6E-02 |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||||
|
0.732 | 0.440 | 1 | 7849677 | missense variant | C/T | snv | 8.7E-02 | 5.6E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2003 | 2004 | ||||||
|
1.000 | 0.080 | 1 | 7850908 | missense variant | C/T | snv | 5.6E-05 | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.776 | 0.360 | 1 | 7853370 | missense variant | G/A | snv | 0.51 | 0.52 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.776 | 0.360 | 1 | 7853370 | missense variant | G/A | snv | 0.51 | 0.52 |
|
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.776 | 0.360 | 1 | 7853370 | missense variant | G/A | snv | 0.51 | 0.52 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.776 | 0.360 | 1 | 7853370 | missense variant | G/A | snv | 0.51 | 0.52 |
|
Immune System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.776 | 0.360 | 1 | 7853370 | missense variant | G/A | snv | 0.51 | 0.52 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.776 | 0.360 | 1 | 7853370 | missense variant | G/A | snv | 0.51 | 0.52 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.776 | 0.360 | 1 | 7853370 | missense variant | G/A | snv | 0.51 | 0.52 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.776 | 0.360 | 1 | 7853370 | missense variant | G/A | snv | 0.51 | 0.52 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.776 | 0.360 | 1 | 7853370 | missense variant | G/A | snv | 0.51 | 0.52 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.776 | 0.360 | 1 | 7853370 | missense variant | G/A | snv | 0.51 | 0.52 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.776 | 0.360 | 1 | 7853370 | missense variant | G/A | snv | 0.51 | 0.52 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.732 | 0.440 | 1 | 7849677 | missense variant | C/T | snv | 8.7E-02 | 5.6E-02 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.732 | 0.440 | 1 | 7849677 | missense variant | C/T | snv | 8.7E-02 | 5.6E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.732 | 0.440 | 1 | 7849677 | missense variant | C/T | snv | 8.7E-02 | 5.6E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.732 | 0.440 | 1 | 7849677 | missense variant | C/T | snv | 8.7E-02 | 5.6E-02 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 |