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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 73626484 | upstream gene variant | T/C;G | snv |
|
0.800 | 1.000 | 2 | 2012 | 2018 | |||||||||||
|
0.763 | 0.240 | 7 | 73606007 | missense variant | C/G | snv | 0.10 | 9.4E-02 |
|
0.800 | 1.000 | 2 | 2008 | 2019 | |||||||
|
1.000 | 0.040 | 7 | 73602675 | intron variant | A/G | snv | 0.19 |
|
Nutritional and Metabolic Diseases | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
7 | 73596112 | intron variant | C/T | snv | 0.15 | 0.15 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.120 | 7 | 73612048 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.120 | 7 | 73593613 | 3 prime UTR variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 7 | 73612048 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2012 | |||||||||
|
7 | 73623036 | intron variant | G/A | snv | 0.16 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
0.925 | 0.120 | 7 | 73593613 | 3 prime UTR variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 7 | 73593613 | 3 prime UTR variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 7 | 73593613 | 3 prime UTR variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 7 | 73593613 | 3 prime UTR variant | G/A | snv | 0.15 |
|
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 | 73593613 | 3 prime UTR variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 7 | 73593613 | 3 prime UTR variant | G/A | snv | 0.15 |
|
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 | 73593613 | 3 prime UTR variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
7 | 73620229 | intron variant | C/A | snv | 4.1E-02 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
7 | 73609551 | non coding transcript exon variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
7 | 73609551 | non coding transcript exon variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.040 | 7 | 73602675 | intron variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 7 | 73602675 | intron variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
7 | 73611645 | intron variant | A/G | snv | 9.5E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 73611821 | intron variant | A/T | snv | 9.5E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 73611821 | intron variant | A/T | snv | 9.5E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 73599571 | synonymous variant | C/G;T | snv | 0.11 | 0.11 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
7 | 73601039 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 |