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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 6 | 169237763 | missense variant | C/G | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2002 | 2015 | |||||||
|
0.925 | 0.080 | 6 | 169237763 | missense variant | C/G | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2002 | 2019 | |||||||
|
6 | 169244314 | intron variant | CACACACACACA/-;CA;CACA;CACACA;CACACACA;CACACACACA;CACACACACACACA;CACACACACACACACA;CACACACACACACACACA;CACACACACACACACACACA;CACACACACACACACACACACA;CACACACACACACACACACACACA;CACACACACACACACACACACACACA;CACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.080 | 6 | 169248872 | missense variant | C/A;T | snv | 6.2E-04 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
6 | 169216002 | 3 prime UTR variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.925 | 0.080 | 6 | 169237763 | missense variant | C/G | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
1.000 | 0.040 | 6 | 169226486 | intron variant | T/C | snv | 6.4E-02 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
6 | 169224805 | intron variant | A/G | snv | 9.6E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.851 | 0.080 | 6 | 169217631 | splice region variant | A/C | snv | 0.22 |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.080 | 6 | 169217631 | splice region variant | A/C | snv | 0.22 |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.080 | 6 | 169217631 | splice region variant | A/C | snv | 0.22 |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.080 | 6 | 169217631 | splice region variant | A/C | snv | 0.22 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 6 | 169234915 | splice region variant | G/A | snv | 0.37 | 0.31 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1.000 | 0.080 | 6 | 169234915 | splice region variant | G/A | snv | 0.37 | 0.31 |
|
0.700 | 0 | ||||||||||
|
6 | 169216017 | 3 prime UTR variant | C/T | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 6 | 169225779 | intron variant | A/G | snv | 0.57 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 6 | 169225779 | intron variant | A/G | snv | 0.57 |
|
Musculoskeletal Diseases; Wounds and Injuries | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
6 | 169237816 | intron variant | G/A | snv | 0.61 | 0.61 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 6 | 169229815 | intron variant | G/C | snv | 0.65 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.120 | 6 | 169229815 | intron variant | G/C | snv | 0.65 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.120 | 6 | 169229688 | intron variant | G/A | snv | 0.61 | 0.68 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1.000 | 0.120 | 6 | 169229688 | intron variant | G/A | snv | 0.61 | 0.68 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 |