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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 7 | 73575060 | intron variant | A/G | snv | 0.16 |
|
0.700 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
0.925 | 0.120 | 7 | 73575060 | intron variant | A/G | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 7 | 73575060 | intron variant | A/G | snv | 0.16 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 7 | 73575060 | intron variant | A/G | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 7 | 73575060 | intron variant | A/G | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 7 | 73575060 | intron variant | A/G | snv | 0.16 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
7 | 73577374 | intron variant | G/A;C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 73577263 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
7 | 73577262 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
7 | 73573739 | intron variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.120 | 7 | 73573024 | non coding transcript exon variant | C/T | snv | 0.28 |
|
0.800 | 1.000 | 4 | 2009 | 2019 | ||||||||
|
0.925 | 0.120 | 7 | 73573024 | non coding transcript exon variant | C/T | snv | 0.28 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 7 | 73573024 | non coding transcript exon variant | C/T | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 7 | 73573024 | non coding transcript exon variant | C/T | snv | 0.28 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.120 | 7 | 73573024 | non coding transcript exon variant | C/T | snv | 0.28 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.851 | 0.200 | 7 | 73568544 | 3 prime UTR variant | C/T | snv | 0.11 |
|
0.800 | 1.000 | 9 | 2008 | 2019 | ||||||||
|
0.851 | 0.200 | 7 | 73568544 | 3 prime UTR variant | C/T | snv | 0.11 |
|
0.800 | 1.000 | 5 | 2010 | 2019 | ||||||||
|
0.851 | 0.200 | 7 | 73568544 | 3 prime UTR variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 3 | 2010 | 2013 | ||||||||
|
0.851 | 0.200 | 7 | 73568544 | 3 prime UTR variant | C/T | snv | 0.11 |
|
Nutritional and Metabolic Diseases | 0.710 | 1.000 | 2 | 2014 | 2017 | |||||||
|
0.925 | 0.120 | 7 | 73568980 | 3 prime UTR variant | A/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 7 | 73568980 | 3 prime UTR variant | A/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 7 | 73568980 | 3 prime UTR variant | A/T | snv | 0.11 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 7 | 73568980 | 3 prime UTR variant | A/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 7 | 73568980 | 3 prime UTR variant | A/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 7 | 73568980 | 3 prime UTR variant | A/T | snv | 0.11 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 |