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 | 0.080 | 8 | 144512319 | missense variant | G/A | snv | 3.6E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 4 | 2005 | 2015 | ||||||
|
0.851 | 0.240 | 8 | 144513412 | stop gained | G/A | snv | 1.2E-04 | 8.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 7 | 1999 | 2016 | ||||||
|
1.000 | 0.080 | 8 | 144514983 | frameshift variant | AGGGGC/GGGGG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 6 | 2000 | 2016 | ||||||||
|
0.851 | 0.240 | 8 | 144513412 | stop gained | G/A | snv | 1.2E-04 | 8.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 5 | 2006 | 2015 | ||||||
|
0.851 | 0.240 | 8 | 144513412 | stop gained | G/A | snv | 1.2E-04 | 8.4E-05 |
|
0.700 | 1.000 | 5 | 2006 | 2015 | |||||||
|
1.000 | 8 | 144516327 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 5 | 2006 | 2015 | |||||||||
|
1.000 | 8 | 144516327 | stop gained | C/T | snv |
|
0.700 | 1.000 | 5 | 2006 | 2015 | ||||||||||
|
1.000 | 0.080 | 8 | 144516070 | frameshift variant | CT/- | del | 7.7E-05 | 1.3E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 5 | 2003 | 2017 | ||||||
|
0.925 | 0.160 | 8 | 144515243 | splice acceptor variant | C/T | snv | 3.6E-05 | 4.9E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 4 | 2000 | 2017 | ||||||
|
8 | 144519045 | intron variant | C/T | snv | 0.43 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 3 | 2017 | 2019 | |||||||||
|
0.925 | 0.240 | 8 | 144515236 | missense variant | G/A | snv | 2.4E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 3 | 2008 | 2012 | ||||||
|
1.000 | 0.080 | 8 | 144513139 | splice acceptor variant | C/G;T | snv | 1.0E-04; 5.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 3 | 2003 | 2009 | |||||||
|
0.925 | 0.160 | 8 | 144513109 | frameshift variant | AT/- | del | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 3 | 1999 | 2014 | |||||||
|
1.000 | 0.080 | 8 | 144513054 | frameshift variant | AC/- | delins | 1.0E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 3 | 2003 | 2016 | ||||||
|
1.000 | 0.080 | 8 | 144515987 | splice donor variant | C/A;G;T | snv | 4.1E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2003 | 2003 | |||||||
|
0.882 | 0.240 | 8 | 144515325 | splice donor variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2000 | 2003 | ||||||||
|
0.882 | 0.240 | 8 | 144515325 | splice donor variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2000 | 2003 | ||||||||
|
0.882 | 0.240 | 8 | 144515325 | splice donor variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2000 | 2003 | ||||||||
|
1.000 | 0.080 | 8 | 144516248 | frameshift variant | C/- | delins | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2003 | 2003 | |||||||
|
1.000 | 0.080 | 8 | 144512563 | splice acceptor variant | T/C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2003 | 2003 | |||||||
|
1.000 | 0.080 | 8 | 144512772 | splice acceptor variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2003 | 2003 | ||||||||
|
0.925 | 0.240 | 8 | 144515324 | splice donor variant | A/- | del | 4.2E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2003 | 2003 | |||||||
|
0.925 | 0.240 | 8 | 144513126 | stop gained | G/A | snv | 5.4E-05 | 4.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2003 | 2009 | ||||||
|
1.000 | 0.080 | 8 | 144511790 | splice acceptor variant | C/G;T | snv | 2.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2003 | 2003 | |||||||
|
0.925 | 0.160 | 8 | 144514441 | splice donor variant | C/T | snv | 4.1E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2003 | 2003 |