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 | 18 | 44701771 | frameshift variant | C/- | delins |
|
0.700 | 0 | |||||||||||||
|
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 | |||||||
|
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 | 0.080 | 18 | 44819625 | intron variant | A/G | snv | 0.15 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||||
|
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 | ||||||||
|
18 | 44856687 | intron variant | C/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
18 | 44859921 | intron variant | C/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
18 | 44859921 | intron variant | C/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
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 | ||||||||
|
1.000 | 18 | 44950745 | frameshift variant | A/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 11 | 2008 | 2017 | |||||||||
|
1.000 | 18 | 44950745 | frameshift variant | A/- | delins |
|
0.700 | 1.000 | 11 | 2008 | 2017 | ||||||||||
|
1.000 | 18 | 44950936 | stop gained | G/A;T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.240 | 18 | 44951160 | frameshift variant | C/- | delins |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
0.925 | 0.240 | 18 | 44951213 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.240 | 18 | 44951213 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
0.925 | 0.240 | 18 | 44951216 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.240 | 18 | 44951216 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 18 | 44951356 | frameshift variant | -/T | ins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
1.000 | 18 | 44951803 | frameshift variant | A/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 18 | 44951912 | missense variant | G/A | snv |
|
Neoplasms; Hemic and Lymphatic Diseases | 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 |