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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.320 | 18 | 44951952 | missense variant | T/C;G | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.800 | 1.000 | 3 | 2010 | 2017 | |||||||
|
1.000 | 0.080 | 18 | 44860573 | intron variant | T/C;G | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.320 | 18 | 44951952 | missense variant | T/C;G | snv | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.882 | 0.320 | 18 | 44951952 | missense variant | T/C;G | snv | 8.0E-06 |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.320 | 18 | 44951952 | missense variant | T/C;G | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2020 | 2020 | |||||||
|
18 | 44766991 | intron variant | T/C | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
18 | 44776250 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 18 | 44950936 | stop gained | G/A;T | snv |
|
0.700 | 0 | |||||||||||||
|
0.851 | 0.320 | 18 | 44951942 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 4 | 2010 | 2017 | |||||||||
|
0.851 | 0.320 | 18 | 44951942 | missense variant | G/A;C | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.800 | 1.000 | 4 | 2010 | 2017 | ||||||||
|
0.851 | 0.320 | 18 | 44951942 | missense variant | G/A;C | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||||||
|
0.851 | 0.320 | 18 | 44951942 | missense variant | G/A;C | snv |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.320 | 18 | 44951942 | missense variant | G/A;C | snv |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 18 | 44831838 | intron variant | G/A;C | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.320 | 18 | 44951948 | missense variant | G/A | snv |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.020 | 1.000 | 2 | 2013 | 2020 | ||||||||
|
0.851 | 0.320 | 18 | 44951948 | missense variant | G/A | snv |
|
Neoplasms | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||||||
|
0.851 | 0.320 | 18 | 44951948 | missense variant | G/A | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||||||
|
0.851 | 0.320 | 18 | 44951948 | missense variant | G/A | snv |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
0.925 | 0.120 | 18 | 44733745 | intron variant | G/A | snv | 0.18 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.120 | 18 | 44733745 | intron variant | G/A | snv | 0.18 |
|
Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.240 | 18 | 44951949 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.320 | 18 | 44951948 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
18 | 45015111 | intron variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 18 | 44951912 | missense variant | G/A | snv |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 18 | 44951954 | missense variant | G/A | snv |
|
0.700 | 0 |