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 | 0.120 | 2 | 201276908 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases | 0.800 | 0 | |||||||||
|
1.000 | 0.080 | 2 | 201285238 | frameshift variant | GT/- | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.160 | 2 | 201258757 | intron variant | ATTCTGTC/- | delins |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.160 | 2 | 201258757 | intron variant | ATTCTGTC/- | delins |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.200 | 2 | 201258707 | intron variant | C/T | snv | 0.57 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.120 | 2 | 201284885 | missense variant | A/G | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||
|
0.827 | 0.120 | 2 | 201279205 | intron variant | T/C | snv | 0.72 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 0.500 | 2 | 2012 | 2019 | |||||||
|
0.827 | 0.120 | 2 | 201279205 | intron variant | T/C | snv | 0.72 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 0.500 | 2 | 2012 | 2019 | |||||||
|
0.851 | 0.200 | 2 | 201258707 | intron variant | C/T | snv | 0.57 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 0.500 | 2 | 2017 | 2019 | |||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
Neoplasms | 0.040 | 0.750 | 4 | 2010 | 2014 | |||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
Neoplasms | 0.050 | 0.800 | 5 | 2010 | 2018 | |||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.100 | 0.875 | 16 | 2004 | 2019 | |||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.100 | 0.882 | 17 | 2004 | 2019 | |||||||
|
0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.050 | 1.000 | 5 | 2008 | 2019 | |||||||
|
0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.050 | 1.000 | 5 | 2008 | 2019 | |||||||
|
0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 |
|
Digestive System Diseases; Neoplasms | 0.040 | 1.000 | 4 | 2008 | 2019 | |||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
Neoplasms | 0.030 | 1.000 | 3 | 2011 | 2019 | |||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
Neoplasms; Nervous System Diseases | 0.020 | 1.000 | 2 | 2008 | 2016 | |||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2010 | 2010 | |||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2010 | 2010 | |||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
Neoplasms; Nervous System Diseases | 0.020 | 1.000 | 2 | 2009 | 2016 | |||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
Neoplasms; Nervous System Diseases | 0.020 | 1.000 | 2 | 2009 | 2016 |