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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.160 | 12 | 7088856 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.800 | 0 | |||||||||||
|
0.925 | 0.160 | 12 | 7088856 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 12 | 7088636 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 12 | 7088636 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 12 | 7082077 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 12 | 7082077 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 12 | 7086423 | missense variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.800 | 0 | |||||||||||
|
0.925 | 0.160 | 12 | 7086423 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
12 | 7090144 | missense variant | C/G | snv | 2.8E-03 | 2.7E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
12 | 7089608 | missense variant | C/G;T | snv | 0.11 | 0.11 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.120 | 12 | 7089608 | missense variant | C/G;T | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 12 | 7089608 | missense variant | C/G;T | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.160 | 12 | 7088853 | missense variant | C/G;T | snv | 4.1E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.160 | 12 | 7086404 | stop gained | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 12 | 7086404 | stop gained | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 12 | 7088853 | missense variant | C/G;T | snv | 4.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 12 | 7088865 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.800 | 0 | |||||||||||
|
0.925 | 0.160 | 12 | 7088865 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
12 | 7094298 | intron variant | G/A | snv | 0.36 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
0.925 | 0.160 | 12 | 7088721 | stop gained | G/A;C;T | snv | 4.1E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.160 | 12 | 7088721 | stop gained | G/A;C;T | snv | 4.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 12 | 7086383 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 12 | 7086383 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 12 | 7091533 | missense variant | GA/AT | mnv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 12 | 7091533 | missense variant | GA/AT | mnv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 0 |