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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.820 | 1.000 | 25 | 1997 | 2015 | ||||||||
|
0.776 | 0.160 | 10 | 87957955 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.810 | 1.000 | 31 | 1997 | 2017 | ||||||||
|
0.790 | 0.160 | 10 | 87952135 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.800 | 1.000 | 23 | 1997 | 2015 | ||||||||
|
0.790 | 0.160 | 10 | 87933129 | missense variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.800 | 1.000 | 23 | 1997 | 2015 | ||||||||
|
0.790 | 0.160 | 10 | 87894049 | missense variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.800 | 1.000 | 23 | 1997 | 2015 | ||||||||
|
0.790 | 0.160 | 10 | 87925557 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.800 | 1.000 | 23 | 1997 | 2015 | ||||||||
|
0.790 | 0.160 | 10 | 87925550 | missense variant | T/A;C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.800 | 1.000 | 23 | 1997 | 2015 | ||||||||
|
0.742 | 0.240 | 10 | 87933127 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.800 | 1.000 | 20 | 1997 | 2008 | ||||||||
|
0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.800 | 1.000 | 20 | 1997 | 2008 | ||||||||
|
0.790 | 0.160 | 10 | 87933223 | missense variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.800 | 1.000 | 3 | 2004 | 2015 | ||||||||
|
0.925 | 0.240 | 10 | 87933037 | missense variant | A/C;G | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 3 | 2005 | 2015 | ||||||||
|
0.925 | 0.240 | 10 | 87957973 | missense variant | A/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 3 | 2005 | 2015 | ||||||||
|
0.925 | 0.240 | 10 | 87957940 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 3 | 2005 | 2015 | ||||||||
|
0.925 | 0.240 | 10 | 87952125 | missense variant | C/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 3 | 2005 | 2015 | ||||||||
|
0.925 | 0.240 | 10 | 87933151 | missense variant | C/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 3 | 2005 | 2015 | ||||||||
|
1.000 | 0.040 | 10 | 87933121 | missense variant | C/G | snv |
|
Neoplasms | 0.800 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.040 | 10 | 87864524 | missense variant | G/A | snv |
|
Neoplasms | 0.800 | 0 | |||||||||||
|
1.000 | 0.040 | 10 | 87957867 | missense variant | G/A | snv |
|
Neoplasms | 0.800 | 0 | |||||||||||
|
0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.730 | 1.000 | 8 | 1997 | 2015 | ||||||||
|
0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.720 | 1.000 | 8 | 1997 | 2015 | ||||||||
|
0.742 | 0.360 | 10 | 87960957 | stop gained | A/G;T | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.710 | 1.000 | 21 | 1997 | 2008 | |||||||
|
0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.710 | 1.000 | 8 | 1997 | 2013 | |||||||
|
0.827 | 0.200 | 10 | 87933165 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.710 | 0.857 | 7 | 2000 | 2013 | ||||||||
|
0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.710 | 1.000 | 5 | 1997 | 2016 | ||||||||
|
0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 2 | 2016 | 2016 |