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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.900 | 0.988 | 63 | 1997 | 2020 | |||||||
|
0.716 | 0.400 | 16 | 3243405 | missense variant | C/T | snv | 1.4E-04 | 6.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.900 | 1.000 | 14 | 1997 | 2017 | ||||||
|
0.732 | 0.440 | 16 | 3243310 | missense variant | A/G;T | snv | 2.2E-03; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.900 | 1.000 | 11 | 1997 | 2019 | |||||||
|
0.742 | 0.560 | 16 | 3243447 | missense variant | C/A;G;T | snv | 1.0E-04; 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.890 | 1.000 | 9 | 1997 | 2016 | |||||||
|
0.827 | 0.320 | 16 | 3249586 | missense variant | G/A;T | snv | 1.5E-02; 4.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.860 | 1.000 | 6 | 2008 | 2017 | |||||||
|
0.925 | 0.040 | 16 | 3243205 | missense variant | C/T | snv | 2.0E-04 | 1.1E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.850 | 1.000 | 5 | 1998 | 2020 | ||||||
|
0.925 | 0.080 | 16 | 3249468 | missense variant | C/A;T | snv | 1.6E-05; 1.3E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.840 | 1.000 | 4 | 1999 | 2016 | |||||||
|
0.925 | 0.040 | 16 | 3243257 | missense variant | C/A;T | snv | 1.8E-03; 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.820 | 1.000 | 2 | 1998 | 2018 | |||||||
|
0.925 | 0.080 | 16 | 3254268 | missense variant | G/A | snv | 1.6E-04 | 1.1E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.810 | 1.000 | 1 | 2010 | 2015 | ||||||
|
0.851 | 0.320 | 16 | 3243403 | missense variant | T/A;C | snv | 8.0E-06; 5.2E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.810 | 1.000 | 1 | 1998 | 2016 | |||||||
|
0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.800 | 0.972 | 36 | 1999 | 2020 | |||||||
|
0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 |
|
Musculoskeletal Diseases | 0.750 | 1.000 | 5 | 2010 | 2019 | |||||||
|
0.827 | 0.200 | 16 | 3254739 | missense variant | A/G | snv | 6.6E-03 | 2.2E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.730 | 1.000 | 3 | 2008 | 2013 | ||||||
|
1.000 | 0.040 | 16 | 3254625 | missense variant | T/A;G | snv | 7.7E-05; 4.3E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.710 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 |
|
Nutritional and Metabolic Diseases | 0.100 | 0.931 | 29 | 1998 | 2018 | |||||||
|
0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 |
|
Musculoskeletal Diseases | 0.100 | 1.000 | 14 | 1999 | 2019 | |||||||
|
0.724 | 0.440 | 16 | 3254463 | missense variant | C/T | snv | 0.24 | 0.21 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.080 | 1.000 | 8 | 2007 | 2019 | ||||||
|
0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.060 | 1.000 | 6 | 1999 | 2013 | |||||||
|
0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.050 | 0.800 | 5 | 2000 | 2015 | |||||||
|
0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 |
|
Nutritional and Metabolic Diseases | 0.040 | 1.000 | 4 | 2000 | 2005 | |||||||
|
0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.040 | 1.000 | 4 | 2000 | 2015 | |||||||
|
0.732 | 0.440 | 16 | 3243310 | missense variant | A/G;T | snv | 2.2E-03; 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.030 | 1.000 | 3 | 2004 | 2010 | |||||||
|
0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 |
|
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2010 | 2019 | |||||||
|
0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 |
|
Musculoskeletal Diseases | 0.030 | 1.000 | 3 | 2010 | 2018 | |||||||
|
0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 |
|
Pathological Conditions, Signs and Symptoms | 0.030 | 1.000 | 3 | 2000 | 2016 |