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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.160 | 12 | 57398797 | intron variant | C/T | snv | 0.19 |
|
0.800 | 1.000 | 4 | 2010 | 2018 | ||||||||
|
0.827 | 0.160 | 12 | 57398797 | intron variant | C/T | snv | 0.19 |
|
0.800 | 1.000 | 4 | 2010 | 2018 | ||||||||
|
0.882 | 0.120 | 12 | 57415673 | intron variant | C/T | snv | 0.19 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.882 | 0.120 | 12 | 57415673 | intron variant | C/T | snv | 0.19 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 12 | 57302894 | intron variant | G/A | snv | 0.19 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 12 | 57302894 | intron variant | G/A | snv | 0.19 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 12 | 57341262 | 5 prime UTR variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.925 | 0.120 | 12 | 57341262 | 5 prime UTR variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.827 | 0.160 | 12 | 57398797 | intron variant | C/T | snv | 0.19 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.827 | 0.160 | 12 | 57398797 | intron variant | C/T | snv | 0.19 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.827 | 0.160 | 12 | 57398797 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.925 | 0.120 | 12 | 57421892 | intron variant | T/C | snv | 0.16 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 12 | 57421892 | intron variant | T/C | snv | 0.16 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 12 | 57372609 | intron variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.925 | 0.120 | 12 | 57372609 | intron variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.925 | 0.120 | 12 | 57377370 | intron variant | C/A | snv | 0.16 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 12 | 57377370 | intron variant | C/A | snv | 0.16 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 12 | 57331414 | intron variant | G/A | snv | 0.20 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 12 | 57331414 | intron variant | G/A | snv | 0.20 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
12 | 57413331 | intron variant | T/C | snv | 0.71 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
0.925 | 0.120 | 12 | 57429802 | intron variant | A/C | snv | 0.19 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 12 | 57429802 | intron variant | A/C | snv | 0.19 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
12 | 57398050 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
0.882 | 0.120 | 12 | 57415673 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 12 | 57415673 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |