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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 15 | 2007 | 2016 | |||||||
|
0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 13 | 2007 | 2017 | |||||||
|
0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases | 0.700 | 1.000 | 4 | 2007 | 2015 | |||||||
|
0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | ||||||||||
|
0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 16 | 23603476 | frameshift variant | -/AA | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 5 | 2007 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 23603477 | frameshift variant | AATA/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 5 | 2007 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 23603497 | stop gained | G/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 5 | 2007 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 23603512 | frameshift variant | AG/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 8 | 2009 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 23603512 | frameshift variant | AG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 6 | 2009 | 2015 | ||||||||
|
0.925 | 0.080 | 16 | 23603523 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 16 | 23603523 | frameshift variant | C/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 16 | 23603526 | stop gained | G/A;T | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 6 | 2007 | 2015 | ||||||
|
1.000 | 0.080 | 16 | 23603528 | stop gained | C/A;T | snv | 2.8E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 16 | 23603529 | stop gained | C/T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 16 | 23603529 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
16 | 23603543 | stop gained | -/CAAT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
16 | 23603544 | stop gained | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
1.000 | 0.080 | 16 | 23603563 | frameshift variant | -/T | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 7 | 2009 | 2016 |