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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 89308349 | intron variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
0.882 | 0.080 | 15 | 89316763 | missense variant | C/A | snv | 6.1E-02 | 6.2E-02 |
|
Nervous System Diseases | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||
|
0.882 | 0.080 | 15 | 89316763 | missense variant | C/A | snv | 6.1E-02 | 6.2E-02 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.882 | 0.080 | 15 | 89316763 | missense variant | C/A | snv | 6.1E-02 | 6.2E-02 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 15 | 89317469 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 14 | 2001 | 2006 | |||||||
|
0.925 | 0.080 | 15 | 89317469 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 |
|
Immune System Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 2006 | 2010 | ||||||
|
0.925 | 0.080 | 15 | 89317469 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.925 | 0.120 | 15 | 89293963 | stop gained | A/T | snv | 8.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.925 | 0.200 | 15 | 89260719 | missense variant | C/T | snv | 5.3E-02 | 4.7E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.925 | 0.120 | 15 | 89293963 | stop gained | A/T | snv | 8.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.200 | 15 | 89260719 | missense variant | C/T | snv | 5.3E-02 | 4.7E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.120 | 15 | 89281249 | stop gained | T/A | snv | 2.8E-05 | 4.9E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.120 | 15 | 89281249 | stop gained | T/A | snv | 2.8E-05 | 4.9E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.160 | 15 | 89317492 | stop gained | G/A;T | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 7 | 2002 | 2008 | |||||||
|
1.000 | 0.120 | 15 | 89315319 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 3 | 2007 | 2007 | ||||||||
|
1.000 | 0.120 | 15 | 89303898 | missense variant | G/A | snv | 1.2E-04 | 1.1E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 3 | 2012 | 2016 | ||||||
|
1.000 | 0.120 | 15 | 89294967 | stop gained | G/T | snv | 6.3E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 3 | 2007 | 2011 | ||||||
|
1.000 | 0.080 | 15 | 89317446 | missense variant | C/A | snv |
|
Immune System Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.120 | 15 | 89303898 | missense variant | G/A | snv | 1.2E-04 | 1.1E-04 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||
|
1.000 | 0.120 | 15 | 89303898 | missense variant | G/A | snv | 1.2E-04 | 1.1E-04 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||
|
1.000 | 0.040 | 15 | 89317196 | 3 prime UTR variant | C/A;T | snv |
|
Infections | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 15 | 89260711 | splice acceptor variant | A/G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.080 | 15 | 89317405 | missense variant | C/A;G | snv | 4.0E-06 |
|
Immune System Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 15 | 89317538 | splice acceptor variant | T/C | snv |
|
Immune System Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 15 | 89314671 | stop gained | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 |