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 | 0.120 | 17 | 41817156 | missense variant | G/A | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.800 | 1.000 | 2 | 2011 | 2013 | |||||||
|
1.000 | 0.120 | 17 | 41817149 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.800 | 1.000 | 2 | 2011 | 2013 | |||||||
|
17 | 41821027 | frameshift variant | TG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 7 | 2010 | 2015 | ||||||||||
|
1.000 | 0.120 | 17 | 41818104 | missense variant | C/T | snv | 2.0E-05 | 5.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||||
|
1.000 | 17 | 41819588 | frameshift variant | A/- | del |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.882 | 0.120 | 17 | 41819307 | frameshift variant | C/-;CC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 17 | 41819307 | frameshift variant | C/-;CC | delins |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 17 | 41819307 | frameshift variant | C/-;CC | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 17 | 41819307 | frameshift variant | C/-;CC | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 17 | 41819307 | frameshift variant | C/-;CC | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 17 | 41819220 | frameshift variant | C/-;CC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 17 | 41819371 | stop gained | -/TGATGGAC | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.120 | 17 | 41820960 | frameshift variant | -/C | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 17 | 41820412 | stop gained | C/G;T | snv | 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 17 | 41819559 | frameshift variant | -/T | delins |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.120 | 17 | 41820961 | frameshift variant | CC/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 17 | 41820961 | frameshift variant | CC/A | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 17 | 41819357 | inframe deletion | TAC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 41811190 | missense variant | T/A;C | snv | 0.38 | 0.34 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 |