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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 7 | 18992312 | intron variant | C/T | snv | 0.13 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.830 | 1.000 | 3 | 2012 | 2015 | |||||||
|
0.925 | 0.200 | 7 | 18933395 | intron variant | A/G | snv | 6.0E-02 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2013 | 2017 | |||||||
|
7 | 18999982 | 3 prime UTR variant | T/A;C | snv |
|
Nervous System Diseases; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
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 | ||||||
|
1.000 | 0.080 | 7 | 18855274 | intron variant | T/C | snv | 0.60 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 7 | 18875803 | intron variant | G/A | snv | 0.44 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 7 | 18876043 | intron variant | C/T | snv | 0.43 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 7 | 18875936 | intron variant | G/A;C;T | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 7 | 18935100 | intron variant | T/G | snv | 0.14 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 7 | 18935100 | intron variant | T/G | snv | 0.14 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 7 | 18935100 | intron variant | T/G | snv | 0.14 |
|
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 | 18891596 | intron variant | C/T | snv | 0.74 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 7 | 18876251 | intron variant | A/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 7 | 18591621 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.925 | 0.080 | 7 | 18591621 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 |
|
Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1.000 | 0.080 | 7 | 18848010 | intron variant | A/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 7 | 18370370 | intron variant | A/C | snv | 1.4E-02 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
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 | |||||||
|
1.000 | 0.040 | 7 | 18195234 | intron variant | T/C | snv | 3.9E-02 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 7 | 18195234 | intron variant | T/C | snv | 3.9E-02 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 7 | 18992312 | intron variant | C/T | snv | 0.13 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 |