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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.080 | 2 | 157774114 | missense variant | C/G;T | snv |
|
Musculoskeletal Diseases | 0.900 | 1.000 | 39 | 2006 | 2020 | ||||||||
|
1.000 | 0.040 | 2 | 157761077 | missense variant | C/T | snv |
|
Musculoskeletal Diseases | 0.840 | 0.857 | 7 | 2006 | 2014 | ||||||||
|
0.925 | 0.120 | 2 | 157766004 | missense variant | C/A;T | snv |
|
Musculoskeletal Diseases | 0.820 | 1.000 | 5 | 2006 | 2012 | ||||||||
|
0.925 | 0.120 | 2 | 157766004 | missense variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 4 | 1996 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 157766005 | missense variant | C/A;T | snv |
|
Musculoskeletal Diseases | 0.800 | 1.000 | 3 | 2006 | 2009 | ||||||||
|
1.000 | 0.040 | 2 | 157761020 | missense variant | C/G | snv |
|
Musculoskeletal Diseases | 0.800 | 1.000 | 3 | 2006 | 2009 | ||||||||
|
1.000 | 0.040 | 2 | 157774126 | missense variant | C/A | snv |
|
Musculoskeletal Diseases | 0.800 | 1.000 | 3 | 2006 | 2009 | ||||||||
|
0.851 | 0.080 | 2 | 157774114 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.020 | 1.000 | 2 | 2009 | 2020 | ||||||||
|
1.000 | 0.040 | 2 | 157774144 | missense variant | A/G | snv |
|
Musculoskeletal Diseases | 0.720 | 1.000 | 2 | 2011 | 2014 | ||||||||
|
0.925 | 0.120 | 2 | 157770385 | missense variant | C/A | snv |
|
Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.120 | 2 | 157770385 | missense variant | C/A | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 2 | 157760946 | missense variant | T/C | snv |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.080 | 2 | 157774114 | missense variant | C/G;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.080 | 2 | 157774114 | missense variant | C/G;T | snv |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.851 | 0.080 | 2 | 157774114 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.080 | 2 | 157774114 | missense variant | C/G;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.080 | 2 | 157774114 | missense variant | C/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.080 | 2 | 157774114 | missense variant | C/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 2 | 157761077 | missense variant | C/T | snv |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 2 | 157761077 | missense variant | C/T | snv |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 2 | 157761077 | missense variant | C/T | snv |
|
Mental Disorders | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 2 | 157781929 | intron variant | A/C;T | snv |
|
Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.120 | 2 | 157766004 | missense variant | C/A;T | snv |
|
Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 2 | 157770421 | missense variant | A/T | snv | 8.8E-05 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.160 | 2 | 157770386 | missense variant | T/C;G | snv | 4.0E-06 |
|
Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 |