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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.880 | 1.000 | 8 | 2011 | 2019 | ||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.820 | 1.000 | 10 | 2005 | 2019 | |||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.810 | 1.000 | 2 | 2007 | 2012 | ||||||||
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.810 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.800 | 1.000 | 19 | 2002 | 2019 | ||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.800 | 0.933 | 15 | 2010 | 2019 | |||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.800 | 0.923 | 13 | 1999 | 2020 | |||||||
|
0.827 | 0.320 | 12 | 25245345 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 11 | 2006 | 2014 | ||||||||
|
0.851 | 0.200 | 12 | 25227346 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 7 | 2006 | 2011 | ||||||||
|
0.925 | 0.160 | 12 | 25227351 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 7 | 2006 | 2011 | ||||||||
|
0.776 | 0.400 | 12 | 25245284 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 7 | 2006 | 2014 | ||||||||
|
0.776 | 0.400 | 12 | 25245284 | missense variant | G/A;C | snv |
|
0.800 | 1.000 | 6 | 2006 | 2014 | |||||||||
|
0.925 | 0.160 | 12 | 25245372 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 6 | 2006 | 2011 | ||||||||
|
0.851 | 0.200 | 12 | 25227346 | missense variant | C/G;T | snv |
|
0.800 | 1.000 | 5 | 2006 | 2012 | |||||||||
|
0.925 | 0.160 | 12 | 25227313 | missense variant | A/C;G | snv |
|
0.800 | 1.000 | 5 | 2006 | 2012 | |||||||||
|
1.000 | 12 | 25225625 | missense variant | T/C | snv |
|
0.800 | 1.000 | 5 | 2006 | 2012 | ||||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.800 | 0 | |||||||||||
|
0.882 | 0.160 | 12 | 25245320 | missense variant | T/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 0 | |||||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.790 | 1.000 | 26 | 2002 | 2019 | |||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.770 | 1.000 | 7 | 2011 | 2019 | ||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.740 | 1.000 | 4 | 2003 | 2019 | |||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
Neoplasms | 0.730 | 1.000 | 5 | 2014 | 2019 | ||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.730 | 1.000 | 3 | 2012 | 2019 | |||||||
|
0.827 | 0.320 | 12 | 25245345 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.720 | 1.000 | 9 | 2006 | 2018 | ||||||||
|
0.724 | 0.560 | 12 | 25209904 | missense variant | T/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.720 | 1.000 | 7 | 2006 | 2008 |