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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 16 | 89637349 | missense variant | G/A;T | snv | 2.8E-05; 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | ||||||||||
|
16 | 89641688 | downstream gene variant | G/A | snv | 0.33 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.040 | 16 | 89637957 | missense variant | G/A;C | snv | 1.3E-05; 0.26 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 16 | 89637957 | missense variant | G/A;C | snv | 1.3E-05; 0.26 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 16 | 89637957 | missense variant | G/A;C | snv | 1.3E-05; 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
16 | 89633115 | intron variant | G/A | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 16 | 89637551 | splice region variant | C/T | snv | 2.2E-04 | 3.6E-04 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1.000 | 0.080 | 16 | 89637333 | missense variant | G/A;C;T | snv | 5.3E-04; 3.9E-04; 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 16 | 89637333 | missense variant | G/A;C;T | snv | 5.3E-04; 3.9E-04; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 16 | 89637333 | missense variant | G/A;C;T | snv | 5.3E-04; 3.9E-04; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
16 | 89637345 | missense variant | C/G;T | snv | 4.0E-06; 1.8E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
16 | 89641595 | downstream gene variant | T/A | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
16 | 89625890 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||||
|
16 | 89641884 | downstream gene variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
16 | 89641884 | downstream gene variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
16 | 89634473 | intron variant | G/A;C | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
16 | 89634339 | intron variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
16 | 89615598 | intron variant | T/C | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
16 | 89615598 | intron variant | T/C | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
16 | 89615782 | intron variant | C/T | snv | 6.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 16 | 89637957 | missense variant | G/A;C | snv | 1.3E-05; 0.26 |
|
0.700 | 1.000 | 2 | 2016 | 2016 |