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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 48610929 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.040 | 15 | 48622578 | intron variant | T/C | snv | 7.5E-02 |
|
Cardiovascular Diseases | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.040 | 15 | 48622729 | intron variant | A/G | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 15 | 48622729 | intron variant | A/G | snv | 0.24 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.040 | 15 | 48622729 | intron variant | A/G | snv | 0.24 |
|
Respiratory Tract Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.040 | 15 | 48622729 | intron variant | A/G | snv | 0.24 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.040 | 15 | 48622729 | intron variant | A/G | snv | 0.24 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 15 | 48410676 | 3 prime UTR variant | G/A | snv | 0.64 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.040 | 15 | 48464998 | intron variant | A/G | snv | 0.35 |
|
Cardiovascular Diseases | 0.020 | 0.500 | 2 | 2014 | 2015 | |||||||
|
0.925 | 0.040 | 15 | 48464998 | intron variant | A/G | snv | 0.35 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.160 | 15 | 48437837 | stop gained | C/A;G | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 15 | 48437837 | stop gained | C/A;G | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 15 | 48425795 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 15 | 48425795 | missense variant | T/C | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 15 | 48425795 | missense variant | T/C | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 15 | 48425795 | missense variant | T/C | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.240 | 15 | 48430742 | missense variant | T/A | snv |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.240 | 15 | 48430742 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.240 | 15 | 48430742 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | 15 | 48430742 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.240 | 15 | 48430742 | missense variant | T/A | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.240 | 15 | 48430742 | missense variant | T/A | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.200 | 15 | 48513656 | missense variant | C/A;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 7 | 2006 | 2017 | ||||||||
|
0.827 | 0.200 | 15 | 48513656 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 7 | 2006 | 2017 | |||||||||
|
0.827 | 0.200 | 15 | 48513656 | missense variant | C/A;G;T | snv |
|
Eye Diseases | 0.700 | 0 |