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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.200 | 15 | 75866642 | intron variant | G/A;T | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
0.882 | 0.200 | 15 | 75866642 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2010 | 2016 | |||||||||
|
0.882 | 0.200 | 15 | 75866642 | intron variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.200 | 15 | 75866642 | intron variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.200 | 15 | 75866642 | intron variant | G/A;T | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.200 | 15 | 75866642 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.200 | 15 | 75866642 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
15 | 75891486 | intron variant | T/-;TT;TTT | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.925 | 0.120 | 15 | 75868610 | intron variant | A/G | snv | 0.45 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 15 | 75868610 | intron variant | A/G | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 15 | 75868610 | intron variant | A/G | snv | 0.45 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 15 | 75843853 | splice region variant | C/T | snv | 0.54 | 0.43 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1.000 | 0.040 | 15 | 75843853 | splice region variant | C/T | snv | 0.54 | 0.43 |
|
Endocrine System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1.000 | 0.040 | 15 | 75843853 | splice region variant | C/T | snv | 0.54 | 0.43 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
15 | 75899303 | intron variant | A/T | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |