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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.080 | 11 | 116830638 | splice donor variant | G/A | snv | 1.4E-03 | 1.5E-03 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | |||||||
|
1.000 | 0.040 | 11 | 116830637 | stop gained | C/G;T | snv | 8.0E-06; 6.6E-04 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 116830637 | stop gained | C/G;T | snv | 8.0E-06; 6.6E-04 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
1.000 | 11 | 116830784 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.040 | 11 | 116830953 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
11 | 116830819 | synonymous variant | T/C | snv | 0.65 | 0.70 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 11 | 116832924 | 3 prime UTR variant | G/C | snv | 0.84 | 0.87 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.080 | 11 | 116832924 | 3 prime UTR variant | G/C | snv | 0.84 | 0.87 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
11 | 116831134 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
11 | 116831134 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
11 | 116833462 | upstream gene variant | C/A | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 116832864 | missense variant | A/G | snv | 2.8E-05 |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.080 | 11 | 116832816 | missense variant | A/G | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.080 | 11 | 116830638 | splice donor variant | G/A | snv | 1.4E-03 | 1.5E-03 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.851 | 0.080 | 11 | 116830638 | splice donor variant | G/A | snv | 1.4E-03 | 1.5E-03 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.851 | 0.080 | 11 | 116830638 | splice donor variant | G/A | snv | 1.4E-03 | 1.5E-03 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.925 | 0.080 | 11 | 116830844 | missense variant | G/A;T | snv | 8.7E-04; 8.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 11 | 116832955 | 3 prime UTR variant | G/T | snv | 0.45 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | 11 | 116832924 | 3 prime UTR variant | G/C | snv | 0.84 | 0.87 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.925 | 0.080 | 11 | 116832816 | missense variant | A/G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 1991 | 1991 | |||||||
|
0.807 | 0.200 | 11 | 116829453 | upstream gene variant | C/T | snv | 0.51 |
|
Digestive System Diseases | 0.060 | 1.000 | 6 | 2010 | 2018 | |||||||
|
0.851 | 0.200 | 11 | 116829426 | upstream gene variant | T/A;C | snv |
|
Digestive System Diseases | 0.060 | 1.000 | 6 | 2010 | 2016 | ||||||||
|
0.807 | 0.200 | 11 | 116829453 | upstream gene variant | C/T | snv | 0.51 |
|
Digestive System Diseases | 0.020 | 1.000 | 2 | 2012 | 2017 | |||||||
|
0.807 | 0.200 | 11 | 116829453 | upstream gene variant | C/T | snv | 0.51 |
|
Digestive System Diseases | 0.020 | 1.000 | 2 | 2012 | 2017 | |||||||
|
0.882 | 0.120 | 11 | 116830958 | intron variant | T/A;C | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 |