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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 115586972 | intron variant | T/C;G | snv | 2.0E-04; 0.65 |
|
0.800 | 1.000 | 4 | 2010 | 2018 | ||||||||||
|
0.827 | 0.200 | 8 | 115418359 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.800 | 1.000 | 3 | 2008 | 2017 | ||||||||
|
0.925 | 0.160 | 8 | 115418391 | missense variant | C/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.800 | 1.000 | 3 | 2001 | 2017 | ||||||||
|
1.000 | 0.160 | 8 | 115418413 | missense variant | T/G | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.800 | 1.000 | 2 | 2001 | 2002 | ||||||||
|
0.925 | 0.160 | 8 | 115415015 | missense variant | G/A | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.800 | 1.000 | 2 | 2004 | 2015 | ||||||||
|
0.925 | 0.160 | 8 | 115415014 | missense variant | C/T | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.800 | 1.000 | 2 | 2004 | 2015 | ||||||||
|
8 | 115636338 | intron variant | A/C | snv | 0.48 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1.000 | 0.120 | 8 | 115801679 | intron variant | G/A | snv | 0.54 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 8 | 115604881 | stop gained | A/C | snv |
|
0.700 | 1.000 | 5 | 2000 | 2015 | ||||||||||
|
1.000 | 8 | 115604881 | stop gained | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 5 | 2000 | 2015 | |||||||||
|
0.683 | 0.280 | 8 | 115604339 | stop gained | G/A;T | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 5 | 2001 | 2017 | ||||||||
|
0.683 | 0.280 | 8 | 115604339 | stop gained | G/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 5 | 2001 | 2017 | ||||||||
|
0.827 | 0.200 | 8 | 115418359 | missense variant | C/T | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 4 | 2008 | 2017 | ||||||||
|
0.925 | 0.160 | 8 | 115418391 | missense variant | C/G;T | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
8 | 115586972 | intron variant | T/C;G | snv | 2.0E-04; 0.65 |
|
0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||||
|
8 | 115651671 | intron variant | G/A | snv | 0.24 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
0.925 | 0.160 | 8 | 115418392 | stop gained | G/A;T | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||||
|
0.925 | 0.160 | 8 | 115418392 | stop gained | G/A;T | snv | 8.0E-06 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||||
|
8 | 115590628 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
8 | 115539178 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.080 | 8 | 115604099 | stop gained | G/A;C | snv | 8.0E-06 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 8 | 115587144 | stop gained | G/A | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.160 | 8 | 115418358 | missense variant | G/A | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
8 | 115432023 | intron variant | T/A | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 115585182 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |