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 | 100718331 | upstream gene variant | C/T | snv | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 100730346 | intron variant | G/C | snv | 2.5E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.851 | 0.200 | 1 | 100731231 | missense variant | G/A;C | snv | 4.0E-06; 9.9E-03 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.020 | 0.500 | 2 | 2002 | 2015 | |||||||
|
0.882 | 0.160 | 1 | 100718269 | upstream gene variant | T/C | snv | 0.18 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.160 | 1 | 100718269 | upstream gene variant | T/C | snv | 0.18 |
|
Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.160 | 1 | 100718269 | upstream gene variant | T/C | snv | 0.18 |
|
Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.120 | 1 | 100724755 | missense variant | G/A | snv | 4.0E-06 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
1 | 100728649 | intron variant | C/A;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.851 | 0.200 | 1 | 100731231 | missense variant | G/A;C | snv | 4.0E-06; 9.9E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.200 | 1 | 100731231 | missense variant | G/A;C | snv | 4.0E-06; 9.9E-03 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.851 | 0.200 | 1 | 100731231 | missense variant | G/A;C | snv | 4.0E-06; 9.9E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.200 | 1 | 100731231 | missense variant | G/A;C | snv | 4.0E-06; 9.9E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.200 | 1 | 100731231 | missense variant | G/A;C | snv | 4.0E-06; 9.9E-03 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 1 | 100725310 | intron variant | A/C | snv | 0.18 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 1 | 100736666 | non coding transcript exon variant | A/G;T | snv |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1 | 100724804 | missense variant | T/A;C | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 |