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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 12 | 57749249 | missense variant | G/C;T | snv | 5.2E-05; 8.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.160 | 12 | 57750765 | missense variant | C/T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 12 | 57751572 | missense variant | A/G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
1.000 | 12 | 57751596 | missense variant | T/C | snv | 1.1E-04 | 1.3E-04 |
|
0.700 | 1.000 | 4 | 1995 | 1998 | ||||||||
|
0.827 | 0.200 | 12 | 57751647 | missense variant | C/A;T | snv |
|
Neoplasms | 0.740 | 0.600 | 5 | 2003 | 2014 | ||||||||
|
0.827 | 0.200 | 12 | 57751647 | missense variant | C/A;T | snv |
|
0.800 | 1.000 | 4 | 1995 | 1998 | |||||||||
|
0.827 | 0.200 | 12 | 57751647 | missense variant | C/A;T | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.200 | 12 | 57751647 | missense variant | C/A;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.200 | 12 | 57751647 | missense variant | C/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
Neoplasms | 0.100 | 1.000 | 11 | 1997 | 2016 | |||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 5 | 1995 | 2013 | ||||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.020 | 0.500 | 2 | 2002 | 2003 | |||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
Neoplasms | 0.020 | 0.500 | 2 | 2002 | 2006 | |||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 2006 | 2006 |