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 | 73602532 | intron variant | T/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 73602532 | intron variant | T/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
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 |
|
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 | 73612048 | intron variant | C/A;T | snv |
|
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 | 73612048 | intron variant | C/A;T | snv |
|
0.700 | 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 | 73612048 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | 7 | 73612048 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 7 | 73612048 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.120 | 7 | 73612048 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
7 | 73615107 | intron variant | C/T | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 73615107 | intron variant | C/T | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 73615107 | intron variant | C/T | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 73623626 | intron variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 73604194 | intron variant | T/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 73601851 | intron variant | T/C | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 73597712 | missense variant | G/A | snv | 0.10 | 0.10 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
7 | 73597712 | missense variant | G/A | snv | 0.10 | 0.10 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
7 | 73603327 | intron variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 7 | 73625076 | upstream gene variant | C/G;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 7 | 73625076 | upstream gene variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.763 | 0.240 | 7 | 73606007 | missense variant | C/G | snv | 0.10 | 9.4E-02 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.763 | 0.240 | 7 | 73606007 | missense variant | C/G | snv | 0.10 | 9.4E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.763 | 0.240 | 7 | 73606007 | missense variant | C/G | snv | 0.10 | 9.4E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 |