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 | 0.040 | 3 | 138369222 | intron variant | G/C | snv | 0.19 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.160 | 3 | 138372947 | frameshift variant | G/- | delins | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 3 | 138381697 | intron variant | T/G | snv | 0.18 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 3 | 138378471 | intron variant | T/C | snv | 0.84 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 3 | 138403939 | 3 prime UTR variant | A/G | snv | 4.0E-02 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.160 | 3 | 138386212 | intron variant | G/A;C | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.160 | 3 | 138386212 | intron variant | G/A;C | snv |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.160 | 3 | 138386212 | intron variant | G/A;C | snv |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.160 | 3 | 138386212 | intron variant | G/A;C | snv |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 3 | 138386212 | intron variant | G/A;C | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 3 | 138359313 | intron variant | T/C | snv | 0.65 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.200 | 3 | 138403280 | 3 prime UTR variant | C/A;T | snv |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.200 | 3 | 138403280 | 3 prime UTR variant | C/A;T | snv |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.200 | 3 | 138403280 | 3 prime UTR variant | C/A;T | snv |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||||
|
0.807 | 0.200 | 3 | 138403280 | 3 prime UTR variant | C/A;T | snv |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.200 | 3 | 138403280 | 3 prime UTR variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
3 | 138389241 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2018 | |||||||||||
|
3 | 138372298 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.080 | 3 | 138387856 | intron variant | C/T | snv | 0.82 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
3 | 138385085 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
3 | 138385085 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1.000 | 0.040 | 3 | 138380319 | intron variant | -/CTT | delins | 0.21 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 138348474 | intron variant | G/C | snv | 4.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 138378692 | intron variant | C/A | snv | 8.6E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
3 | 138389241 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 |