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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 | 59023277 | intron variant | -/AA | ins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
20 | 59023277 | intron variant | -/AA | ins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
20 | 59024287 | missense variant | C/T | snv | 6.0E-05 | 1.6E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
20 | 59022396 | intron variant | T/G | snv | 3.5E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
20 | 59014711 | upstream gene variant | T/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
20 | 59021437 | intron variant | C/A | snv | 4.5E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
20 | 59023753 | missense variant | G/A | snv | 8.7E-04 | 9.0E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
20 | 59023753 | missense variant | G/A | snv | 8.7E-04 | 9.0E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
20 | 59023753 | missense variant | G/A | snv | 8.7E-04 | 9.0E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
20 | 59021956 | intron variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
20 | 59021956 | intron variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.040 | 20 | 59024379 | missense variant | C/T | snv | 4.0E-06; 6.8E-05; 4.0E-06 | 2.8E-05 |
|
Hemic and Lymphatic Diseases | 0.710 | 1.000 | 2 | 2009 | 2019 | ||||||
|
1.000 | 0.040 | 20 | 59022915 | frameshift variant | AG/- | del | 4.0E-06 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2005 | 2007 | |||||||
|
1.000 | 0.040 | 20 | 59022915 | missense variant | A/C | snv | 7.7E-02 | 5.7E-02 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2005 | 2007 | ||||||
|
0.925 | 0.040 | 20 | 59024379 | missense variant | C/T | snv | 4.0E-06; 6.8E-05; 4.0E-06 | 2.8E-05 |
|
Hemic and Lymphatic Diseases | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1.000 | 0.040 | 20 | 59022915 | frameshift variant | AG/- | del | 4.0E-06 |
|
Hemic and Lymphatic Diseases | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 20 | 59022915 | frameshift variant | AG/- | del | 4.0E-06 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.040 | 20 | 59023863 | missense variant | G/A | snv | 3.6E-05 | 2.1E-05 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1.000 | 0.040 | 20 | 59022915 | missense variant | A/C | snv | 7.7E-02 | 5.7E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 20 | 59022915 | missense variant | A/C | snv | 7.7E-02 | 5.7E-02 |
|
Hemic and Lymphatic Diseases | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||
|
1.000 | 0.040 | 20 | 59022915 | missense variant | A/C | snv | 7.7E-02 | 5.7E-02 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1.000 | 0.120 | 20 | 59023745 | stop gained | C/G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 20 | 59023906 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | 20 | 59019557 | frameshift variant | G/- | del | 5.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 |