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 | 0.040 | 17 | 58693735 | 3 prime UTR variant | C/T | snv | 0.17 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.040 | 17 | 58693735 | 3 prime UTR variant | C/T | snv | 0.17 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 17 | 58720767 | missense variant | A/G | snv | 5.6E-03 | 6.4E-03 |
|
0.700 | 1.000 | 3 | 2010 | 2014 | ||||||||
|
0.925 | 0.080 | 17 | 58695161 | missense variant | G/A | snv | 3.5E-03 | 3.4E-03 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||
|
0.925 | 0.080 | 17 | 58695161 | missense variant | G/A | snv | 3.5E-03 | 3.4E-03 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||
|
0.925 | 0.080 | 17 | 58696794 | missense variant | T/C | snv | 1.6E-04 | 9.1E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||
|
0.925 | 0.080 | 17 | 58696794 | missense variant | T/C | snv | 1.6E-04 | 9.1E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||
|
0.882 | 0.200 | 17 | 58692733 | frameshift variant | G/- | delins | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 2011 | 2016 | |||||||
|
0.882 | 0.200 | 17 | 58692733 | frameshift variant | G/- | delins | 2.8E-05 |
|
0.700 | 1.000 | 3 | 2011 | 2016 | ||||||||
|
0.882 | 0.200 | 17 | 58692733 | frameshift variant | G/- | delins | 2.8E-05 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.200 | 17 | 58692733 | frameshift variant | G/- | delins | 2.8E-05 |
|
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 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.120 | 17 | 58709926 | missense variant | G/A | snv | 4.4E-05; 1.6E-05 | 2.1E-05 |
|
0.800 | 1.000 | 4 | 2010 | 2015 | |||||||
|
0.882 | 0.120 | 17 | 58709926 | missense variant | G/A | snv | 4.4E-05; 1.6E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 2010 | 2016 | ||||||
|
0.882 | 0.120 | 17 | 58709926 | missense variant | G/A | snv | 4.4E-05; 1.6E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.882 | 0.120 | 17 | 58709926 | missense variant | G/A | snv | 4.4E-05; 1.6E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.882 | 0.120 | 17 | 58709857 | splice acceptor variant | A/C;G | snv | 2.0E-05 | 2.1E-05 |
|
0.700 | 1.000 | 11 | 2010 | 2016 | |||||||
|
0.882 | 0.120 | 17 | 58709857 | splice acceptor variant | A/C;G | snv | 2.0E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 6 | 2011 | 2016 | ||||||
|
0.882 | 0.120 | 17 | 58709857 | splice acceptor variant | A/C;G | snv | 2.0E-05 | 2.1E-05 |
|
0.700 | 1.000 | 2 | 2013 | 2015 | |||||||
|
0.882 | 0.120 | 17 | 58709857 | splice acceptor variant | A/C;G | snv | 2.0E-05 | 2.1E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | |||||||||
|
0.882 | 0.200 | 17 | 58709862 | stop gained | C/T | snv | 1.6E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 2014 | 2017 | ||||||
|
0.882 | 0.200 | 17 | 58709862 | stop gained | C/T | snv | 1.6E-05 | 1.4E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2017 | |||||||
|
0.882 | 0.200 | 17 | 58709862 | stop gained | C/T | snv | 1.6E-05 | 1.4E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2017 | |||||||
|
0.882 | 0.200 | 17 | 58709862 | stop gained | C/T | snv | 1.6E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||
|
0.790 | 0.160 | 17 | 58703325 | stop gained | C/G | snv | 6.4E-05; 4.0E-06 | 1.4E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.790 | 0.160 | 17 | 58703325 | stop gained | C/G | snv | 6.4E-05; 4.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2014 | 2014 |