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 | 0.120 | 12 | 48966271 | missense variant | G/A;C;T | snv | 8.0E-06; 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.120 | 12 | 48966271 | missense variant | G/A;C;T | snv | 8.0E-06; 4.0E-06; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.040 | 12 | 48970460 | missense variant | T/C | snv | 4.1E-06 | 1.4E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
0.925 | 0.040 | 12 | 48970460 | missense variant | T/C | snv | 4.1E-06 | 1.4E-05 |
|
Neoplasms; Nervous System Diseases | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||||
|
0.925 | 0.040 | 12 | 48970460 | missense variant | T/C | snv | 4.1E-06 | 1.4E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
0.925 | 0.120 | 12 | 48979482 | missense variant | T/C | snv | 1.2E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.925 | 0.120 | 12 | 48979482 | missense variant | T/C | snv | 1.2E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||
|
0.925 | 0.080 | 12 | 48968320 | splice acceptor variant | C/G;T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 12 | 48968320 | splice acceptor variant | C/G;T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 12 | 48978757 | splice region variant | AGTGAGCTGGTGCGGGGTCGCCACTTGTCCCGCGGCACAGA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||||
|
0.925 | 12 | 48978757 | splice region variant | AGTGAGCTGGTGCGGGGTCGCCACTTGTCCCGCGGCACAGA/- | delins |
|
0.700 | 0 | |||||||||||||
|
0.925 | 12 | 48978757 | splice region variant | AGTGAGCTGGTGCGGGGTCGCCACTTGTCCCGCGGCACAGA/- | delins |
|
0.700 | 0 | |||||||||||||
|
0.925 | 12 | 48978757 | splice region variant | AGTGAGCTGGTGCGGGGTCGCCACTTGTCCCGCGGCACAGA/- | delins |
|
Musculoskeletal Diseases | 0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 12 | 48981179 | missense variant | T/G | snv | 4.9E-05 | 7.0E-06 |
|
Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.740 | 1.000 | 6 | 2013 | 2019 | ||||||
|
1.000 | 0.040 | 12 | 48979625 | missense variant | A/C | snv | 4.0E-06 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 12 | 48966316 | missense variant | A/C;T | snv | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 12 | 48966448 | frameshift variant | C/-;CC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 12 | 48966519 | missense variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 12 | 48966364 | missense variant | G/A | snv | 1.1E-02 | 1.2E-02 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
1.000 | 0.080 | 12 | 48967974 | missense variant | C/T | snv | 1.9E-04 | 7.0E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1.000 | 0.040 | 12 | 48979627 | missense variant | T/A | snv | 3.1E-03 | 3.7E-03 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1.000 | 12 | 48968025 | missense variant | C/T | snv | 2.0E-05 | 2.8E-05 |
|
0.800 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 12 | 48981380 | splice acceptor variant | -/C | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 12 | 48981380 | splice acceptor variant | -/C | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 12 | 48980693 | splice region variant | A/G | snv |
|
0.700 | 0 |