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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 7668790 | upstream gene variant | A/C | snv | 5.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
19 | 7668689 | upstream gene variant | G/A | snv | 3.1E-02 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
19 | 7670589 | downstream gene variant | G/C | snv | 0.46 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 19 | 7670411 | 3 prime UTR variant | G/A | snv | 6.6E-02 |
|
Nutritional and Metabolic Diseases | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 19 | 7670254 | missense variant | T/A | snv | 4.1E-04 | 5.4E-04 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.925 | 0.120 | 19 | 7669483 | intron variant | C/T | snv | 0.20 | 0.19 |
|
Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||
|
0.925 | 0.120 | 19 | 7669483 | intron variant | C/T | snv | 0.20 | 0.19 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||
|
1.000 | 0.120 | 19 | 7668069 | upstream gene variant | C/G;T | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 19 | 7668069 | upstream gene variant | C/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 19 | 7669883 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
0.925 | 0.120 | 19 | 7669883 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
0.925 | 0.120 | 19 | 7670321 | missense variant | G/A;C | snv |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 19 | 7670321 | missense variant | G/A;C | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.200 | 19 | 7669625 | intron variant | G/A | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.200 | 19 | 7669625 | intron variant | G/A | snv | 0.39 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.827 | 0.200 | 19 | 7669625 | intron variant | G/A | snv | 0.39 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.827 | 0.200 | 19 | 7669625 | intron variant | G/A | snv | 0.39 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.827 | 0.200 | 19 | 7669625 | intron variant | G/A | snv | 0.39 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.827 | 0.200 | 19 | 7669625 | intron variant | G/A | snv | 0.39 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.827 | 0.200 | 19 | 7669625 | intron variant | G/A | snv | 0.39 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.200 | 19 | 7669625 | intron variant | G/A | snv | 0.39 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.240 | 19 | 7669884 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.030 | 1.000 | 3 | 2008 | 2018 | |||||||
|
0.851 | 0.240 | 19 | 7669884 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.030 | 1.000 | 3 | 2003 | 2007 | |||||||
|
0.851 | 0.240 | 19 | 7669884 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2003 | 2005 | |||||||
|
0.807 | 0.240 | 19 | 7668969 | upstream gene variant | G/A | snv | 5.0E-02 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 |