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 | 0.080 | 7 | 18647831 | missense variant | T/A | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.120 | 7 | 18647924 | missense variant | A/G | snv | 8.1E-06 | 4.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.851 | 0.240 | 7 | 18658708 | intron variant | T/G | snv | 3.8E-02 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.240 | 7 | 18658708 | intron variant | T/G | snv | 3.8E-02 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.240 | 7 | 18658708 | intron variant | T/G | snv | 3.8E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.240 | 7 | 18658708 | intron variant | T/G | snv | 3.8E-02 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
7 | 18659038 | intron variant | T/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 7 | 18670765 | intron variant | G/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
7 | 18695624 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.882 | 0.120 | 7 | 18723029 | intron variant | C/A | snv | 0.31 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.120 | 7 | 18723029 | intron variant | C/A | snv | 0.31 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.120 | 7 | 18723029 | intron variant | C/A | snv | 0.31 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
7 | 18732931 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
7 | 18747194 | intron variant | G/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 18797044 | intron variant | G/A;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
7 | 18814978 | intron variant | T/A | snv | 0.46 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 7 | 18825739 | intron variant | A/C | snv | 0.28 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 7 | 18827221 | intron variant | A/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 7 | 18828408 | intron variant | C/T | snv | 0.32 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 7 | 18832069 | intron variant | C/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 7 | 18834762 | intron variant | T/A;G | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 7 | 18837276 | intron variant | C/A | snv | 0.39 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 7 | 18837785 | intron variant | C/A | snv | 0.42 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 7 | 18837993 | intron variant | A/G | snv | 0.41 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.807 | 0.080 | 7 | 18838251 | intron variant | T/G | snv | 0.43 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 1 | 2012 | 2012 |