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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 18999982 | 3 prime UTR variant | T/A;C | snv |
|
Nervous System Diseases; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
1.000 | 0.080 | 7 | 18875936 | intron variant | G/A;C;T | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 7 | 18876251 | intron variant | A/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 7 | 18848010 | intron variant | A/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
7 | 18695624 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
7 | 18797044 | intron variant | G/A;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
1.000 | 0.080 | 7 | 18647831 | missense variant | T/A | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
7 | 18477656 | intron variant | G/A;T | snv |
|
Nervous System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 0.080 | 7 | 18834762 | intron variant | T/A;G | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 7 | 18838527 | intron variant | G/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
7 | 18996297 | 3 prime UTR variant | T/A;C | snv |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 18996297 | 3 prime UTR variant | T/A;C | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
7 | 18978598 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.925 | 0.200 | 7 | 18935566 | intron variant | T/A;C | snv |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.200 | 7 | 18935566 | intron variant | T/A;C | snv |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.200 | 7 | 18935566 | intron variant | T/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 7 | 18827221 | intron variant | A/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 7 | 18832069 | intron variant | C/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
7 | 18732931 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.040 | 7 | 18404796 | intron variant | A/G;T | snv |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 7 | 18844067 | intron variant | G/A;C | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 7 | 18873192 | intron variant | T/C;G | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 7 | 18873267 | intron variant | C/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 7 | 18644690 | missense variant | G/A;T | snv | 4.1E-05; 4.1E-06 |
|
Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 7 | 18644690 | missense variant | G/A;T | snv | 4.1E-05; 4.1E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 |