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 | 0.040 | 5 | 122075443 | missense variant | C/A | snv |
|
0.800 | 1.000 | 2 | 2016 | 2016 | |||||||||
|
0.925 | 0.040 | 5 | 122075482 | missense variant | T/G | snv |
|
0.800 | 1.000 | 2 | 2016 | 2016 | |||||||||
|
0.925 | 5 | 122074155 | missense variant | A/C | snv |
|
0.800 | 0 | |||||||||||||
|
0.641 | 0.400 | 5 | 122077513 | missense variant | C/A;T | snv | 4.0E-06; 0.17 |
|
Cardiovascular Diseases | 0.710 | 1.000 | 2 | 2011 | 2017 | |||||||
|
0.925 | 5 | 122074155 | missense variant | A/C | snv |
|
0.700 | 1.000 | 2 | 2016 | 2016 | ||||||||||
|
0.882 | 0.040 | 5 | 122077861 | stop gained | C/T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
1.000 | 0.040 | 5 | 122077382 | stop gained | C/A;T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 5 | 122070581 | missense variant | A/T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 5 | 122075539 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 5 | 122077751 | missense variant | C/T | snv | 1.6E-04 | 1.6E-04 |
|
0.700 | 0 | |||||||||||
|
1.000 | 5 | 122077526 | missense variant | G/A | snv | 8.0E-06 | 5.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 5 | 122075443 | missense variant | C/A | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.040 | 5 | 122077861 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.040 | 5 | 122077861 | stop gained | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 5 | 122075482 | missense variant | T/G | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.641 | 0.400 | 5 | 122077513 | missense variant | C/A;T | snv | 4.0E-06; 0.17 |
|
Eye Diseases | 0.030 | 0.667 | 3 | 2012 | 2015 | |||||||
|
1.000 | 0.040 | 5 | 122077195 | non coding transcript exon variant | C/A;G | snv |
|
Eye Diseases | 0.030 | 0.667 | 3 | 2012 | 2015 | ||||||||
|
1.000 | 0.040 | 5 | 122073485 | intron variant | G/A;C | snv |
|
Eye Diseases | 0.030 | 1.000 | 3 | 2015 | 2015 | ||||||||
|
0.641 | 0.400 | 5 | 122077513 | missense variant | C/A;T | snv | 4.0E-06; 0.17 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.020 | 1.000 | 2 | 2015 | 2016 | |||||||
|
0.641 | 0.400 | 5 | 122077513 | missense variant | C/A;T | snv | 4.0E-06; 0.17 |
|
Neoplasms | 0.020 | 1.000 | 2 | 2015 | 2016 | |||||||
|
0.641 | 0.400 | 5 | 122077513 | missense variant | C/A;T | snv | 4.0E-06; 0.17 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2012 | 2012 | |||||||
|
0.641 | 0.400 | 5 | 122077513 | missense variant | C/A;T | snv | 4.0E-06; 0.17 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2012 | 2012 | |||||||
|
0.641 | 0.400 | 5 | 122077513 | missense variant | C/A;T | snv | 4.0E-06; 0.17 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2015 | 2016 | |||||||
|
0.641 | 0.400 | 5 | 122077513 | missense variant | C/A;T | snv | 4.0E-06; 0.17 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2012 | 2012 | |||||||
|
0.641 | 0.400 | 5 | 122077513 | missense variant | C/A;T | snv | 4.0E-06; 0.17 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2011 | 2014 |