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 | 10 | 121538644 | synonymous variant | T/A;C | snv | 1.2E-05; 0.78 |
|
Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.120 | 10 | 121520076 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.882 | 0.120 | 10 | 121520076 | missense variant | T/C | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.851 | 0.120 | 10 | 121517391 | missense variant | C/A;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 10 | 121488063 | missense variant | A/T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.120 | 10 | 121488003 | missense variant | T/A | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.120 | 10 | 121488003 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.925 | 0.120 | 10 | 121488003 | missense variant | T/A | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.120 | 10 | 121574943 | intron variant | G/A | snv | 0.40 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.120 | 10 | 121574943 | intron variant | G/A | snv | 0.40 |
|
Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 10 | 121579461 | intron variant | A/G;T | snv | 0.34 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 10 | 121579461 | intron variant | A/G;T | snv | 0.34 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.120 | 10 | 121531750 | intron variant | G/C | snv | 4.8E-02 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.120 | 10 | 121531750 | intron variant | G/C | snv | 4.8E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.695 | 0.280 | 10 | 121575416 | intron variant | G/A;T | snv | 0.34 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 10 | 121503933 | synonymous variant | A/G | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.790 | 0.200 | 10 | 121515260 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.200 | 10 | 121515260 | missense variant | A/G | snv |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.200 | 10 | 121515260 | missense variant | A/G | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.200 | 10 | 121515260 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.200 | 10 | 121515260 | missense variant | A/G | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.200 | 10 | 121515260 | missense variant | A/G | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.080 | 10 | 121498520 | missense variant | A/C;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.708 | 0.640 | 10 | 121515280 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||||||
|
0.708 | 0.640 | 10 | 121515280 | missense variant | T/C | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2006 | 2006 |