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 | 96917099 | intron variant | G/A | snv | 0.38 |
|
Digestive System Diseases | 0.800 | 1.000 | 3 | 2012 | 2017 | |||||||
|
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 | 96917099 | intron variant | G/A | snv | 0.38 |
|
Digestive System Diseases | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||||
|
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 | |||||||
|
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 | |||||||
|
1.000 | 0.040 | 5 | 96785702 | non coding transcript exon variant | A/G | snv | 0.22 |
|
Musculoskeletal Diseases | 0.020 | 0.500 | 2 | 2012 | 2018 | |||||||
|
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 | |||||||
|
1.000 | 0.040 | 5 | 96886185 | intron variant | A/G | snv | 0.55 |
|
Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
5 | 96910265 | non coding transcript exon variant | AA/-;A;AAA;AAAA;AAAAA;AAAAAAAAAAA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.200 | 5 | 96786754 | non coding transcript exon variant | C/T | snv | 0.16 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 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 | |||||||
|
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 | 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 | ||||||||
|
0.790 | 0.080 | 5 | 96794169 | intron variant | -/C | delins | 2.1E-05 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.790 | 0.080 | 5 | 96794169 | intron variant | -/C | delins | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.080 | 5 | 96794169 | intron variant | -/C | delins | 2.1E-05 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2015 | 2015 |