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 | 0.040 | 5 | 96758990 | intron variant | T/G | snv | 0.72 |
|
Musculoskeletal Diseases | 0.760 | 1.000 | 7 | 2010 | 2018 | |||||||
|
1.000 | 0.040 | 5 | 96762191 | 3 prime UTR variant | T/G | snv | 0.36 |
|
Musculoskeletal Diseases | 0.030 | 0.667 | 3 | 2016 | 2018 | |||||||
|
1.000 | 0.040 | 5 | 96777250 | intron variant | A/G | snv | 0.82 |
|
Musculoskeletal Diseases | 0.020 | 1.000 | 2 | 2011 | 2019 | |||||||
|
0.851 | 0.160 | 5 | 96766240 | intron variant | A/G | snv | 0.61 |
|
Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2013 | 2018 | |||||||
|
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 | 96762510 | 3 prime UTR variant | G/A | snv | 0.36 |
|
Musculoskeletal Diseases | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||||
|
5 | 96745179 | intron variant | A/G | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
0.925 | 0.040 | 5 | 96703321 | intron variant | T/C | snv | 0.45 |
|
Eye Diseases | 0.020 | 1.000 | 2 | 2013 | 2018 | |||||||
|
5 | 96532204 | intron variant | C/A | snv | 0.78 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
5 | 96525308 | non coding transcript exon variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
5 | 96525308 | non coding transcript exon variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
5 | 96525308 | non coding transcript exon variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 96746364 | missense variant | T/C | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Mental Disorders | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 5 | 96761124 | 3 prime UTR variant | A/G | snv | 0.35 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
5 | 96742749 | missense variant | T/C | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Mental Disorders | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.040 | 5 | 96742998 | intron variant | A/G | snv | 9.4E-02 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.040 | 5 | 96742998 | intron variant | A/G | snv | 9.4E-02 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
5 | 96771195 | intron variant | T/A | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.851 | 0.160 | 5 | 96766240 | intron variant | A/G | snv | 0.61 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.160 | 5 | 96766240 | intron variant | A/G | snv | 0.61 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 5 | 96710335 | intron variant | A/C;G | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 5 | 96703321 | intron variant | T/C | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
5 | 96528989 | intron variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
5 | 96528989 | intron variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.120 | 5 | 96700607 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 |