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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 46105177 | non coding transcript exon variant | T/C | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
13 | 46105177 | non coding transcript exon variant | T/C | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
13 | 46105177 | non coding transcript exon variant | T/C | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
13 | 46105177 | non coding transcript exon variant | T/C | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
13 | 46055860 | intron variant | C/A;G | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.807 | 0.440 | 13 | 46055809 | missense variant | A/G | snv | 0.74 | 0.77 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
13 | 46070358 | intron variant | C/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
13 | 46055075 | intron variant | AAA/-;A;AA;AAAA;AAAAA | delins | 0.74 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
13 | 46067114 | intron variant | A/G | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
13 | 46067128 | intron variant | G/C;T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
13 | 46076973 | intron variant | C/G | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.807 | 0.440 | 13 | 46055809 | missense variant | A/G | snv | 0.74 | 0.77 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.030 | 1.000 | 3 | 2014 | 2018 | ||||||
|
0.742 | 0.400 | 13 | 46073959 | missense variant | C/T | snv | 0.31 | 0.35 |
|
Cardiovascular Diseases | 0.030 | 0.667 | 3 | 2008 | 2016 | ||||||
|
0.790 | 0.200 | 13 | 46055808 | synonymous variant | A/G | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2003 | 2005 | |||||||
|
0.790 | 0.200 | 13 | 46055808 | synonymous variant | A/G | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2013 | 2019 | |||||||
|
0.790 | 0.200 | 13 | 46055808 | synonymous variant | A/G | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.020 | 0.500 | 2 | 2009 | 2014 | |||||||
|
0.807 | 0.440 | 13 | 46055809 | missense variant | A/G | snv | 0.74 | 0.77 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||||
|
0.742 | 0.400 | 13 | 46073959 | missense variant | C/T | snv | 0.31 | 0.35 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.020 | 0.500 | 2 | 2018 | 2019 | ||||||
|
0.742 | 0.400 | 13 | 46073959 | missense variant | C/T | snv | 0.31 | 0.35 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||||
|
0.790 | 0.200 | 13 | 46055808 | synonymous variant | A/G | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
0.790 | 0.200 | 13 | 46055808 | synonymous variant | A/G | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.790 | 0.200 | 13 | 46055808 | synonymous variant | A/G | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.790 | 0.200 | 13 | 46055808 | synonymous variant | A/G | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.790 | 0.200 | 13 | 46055808 | synonymous variant | A/G | snv | 4.0E-06 |
|
Infections | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.790 | 0.200 | 13 | 46055808 | synonymous variant | A/G | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 |