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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 172506192 | 3 prime UTR variant | T/C | snv | 3.0E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 172505416 | downstream gene variant | -/GAGT | delins |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.882 | 0.160 | 3 | 172505830 | 3 prime UTR variant | A/C;G;T | snv |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.160 | 3 | 172505830 | 3 prime UTR variant | A/C;G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.160 | 3 | 172505830 | 3 prime UTR variant | A/C;G;T | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.160 | 3 | 172505830 | 3 prime UTR variant | A/C;G;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.160 | 3 | 172524100 | upstream gene variant | G/A | snv | 0.16 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.160 | 3 | 172524100 | upstream gene variant | G/A | snv | 0.16 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 3 | 172514196 | intron variant | A/G | snv | 0.23 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 3 | 172514196 | intron variant | A/G | snv | 0.23 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 3 | 172506513 | missense variant | A/C;G;T | snv | 2.1E-05; 0.65 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.120 | 3 | 172505900 | 3 prime UTR variant | T/C | snv | 0.70 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.120 | 3 | 172505900 | 3 prime UTR variant | T/C | snv | 0.70 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 3 | 172523969 | upstream gene variant | T/C | snv | 0.17 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 3 | 172508962 | intron variant | A/C | snv | 0.70 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 3 | 172508291 | intron variant | G/A;T | snv |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 |