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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.360 | 5 | 96788627 | missense variant | T/A;C | snv | 0.62 |
|
Musculoskeletal Diseases | 0.900 | 0.957 | 23 | 2009 | 2020 | |||||||
|
1.000 | 0.040 | 5 | 96793809 | synonymous variant | A/G;T | snv | 0.72; 1.2E-05 |
|
Musculoskeletal Diseases | 0.890 | 1.000 | 10 | 2009 | 2018 | |||||||
|
0.882 | 0.240 | 5 | 96783162 | missense variant | C/G;T | snv | 2.8E-05; 0.15 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.820 | 1.000 | 3 | 2013 | 2019 | |||||||
|
1.000 | 0.040 | 5 | 96917099 | intron variant | G/A | snv | 0.38 |
|
Digestive System Diseases | 0.800 | 1.000 | 3 | 2012 | 2017 | |||||||
|
0.851 | 0.160 | 5 | 96766240 | intron variant | A/G | snv | 0.61 |
|
Skin and Connective Tissue Diseases | 0.800 | 1.000 | 2 | 2010 | 2015 | |||||||
|
1.000 | 0.040 | 5 | 96908845 | intron variant | C/T | snv | 0.62 |
|
Digestive System Diseases | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.040 | 5 | 96783569 | intron variant | A/C;G | snv |
|
Skin and Connective Tissue Diseases | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.240 | 5 | 96786506 | missense variant | C/T | snv | 0.15 | 0.16 |
|
Musculoskeletal Diseases | 0.790 | 0.900 | 10 | 2010 | 2019 | ||||||
|
0.827 | 0.240 | 5 | 96783148 | missense variant | G/C | snv | 0.69 | 0.71 |
|
Skin and Connective Tissue Diseases | 0.710 | 1.000 | 2 | 2015 | 2017 | ||||||
|
1.000 | 0.040 | 5 | 96790605 | missense variant | A/G;T | snv | 0.62 |
|
Musculoskeletal Diseases | 0.710 | 1.000 | 2 | 2011 | 2019 | |||||||
|
1.000 | 5 | 96762313 | frameshift variant | G/- | del |
|
0.710 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 0.040 | 5 | 96917099 | intron variant | G/A | snv | 0.38 |
|
Digestive System Diseases | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||||
|
0.827 | 0.120 | 5 | 96916885 | intron variant | T/C | snv | 0.42 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2012 | 2016 | |||||||
|
0.827 | 0.120 | 5 | 96916885 | intron variant | T/C | snv | 0.42 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2013 | 2016 | |||||||
|
5 | 96838483 | intron variant | A/G | snv | 0.71 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
0.882 | 0.040 | 5 | 96812030 | upstream gene variant | A/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 5 | 96812030 | upstream gene variant | A/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 5 | 96812030 | upstream gene variant | A/G | snv | 0.23 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
5 | 96910265 | non coding transcript exon variant | AA/-;A;AAA;AAAA;AAAAA;AAAAAAAAAAA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.040 | 5 | 96790082 | intron variant | G/T | snv | 0.16 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 5 | 96824289 | intron variant | A/C | snv | 0.90 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
5 | 96903554 | missense variant | T/A | snv | 4.0E-02 | 3.8E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.240 | 5 | 96783162 | missense variant | C/G;T | snv | 2.8E-05; 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
5 | 96798472 | intron variant | T/G | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.790 | 0.080 | 5 | 96794169 | intron variant | -/C | delins | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 |