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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.900 | 0.895 | 19 | 2003 | 2017 | |||||||
|
0.752 | 0.240 | 22 | 28695800 | missense variant | T/A;C;G | snv | 2.4E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.810 | 1.000 | 13 | 2002 | 2018 | |||||||
|
0.882 | 0.120 | 22 | 28734024 | intron variant | T/C | snv | 0.67 |
|
Digestive System Diseases; Neoplasms | 0.810 | 1.000 | 2 | 2010 | 2012 | |||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.800 | 0.929 | 28 | 2001 | 2016 | |||||||
|
0.790 | 0.240 | 22 | 28725254 | missense variant | G/A;T | snv | 5.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.925 | 0.080 | 22 | 28719078 | intron variant | C/T | snv | 0.33 |
|
Digestive System Diseases; Neoplasms | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 22 | 28734673 | missense variant | C/A | snv |
|
Neoplasms | 0.800 | 0 | |||||||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
Neoplasms; Respiratory Tract Diseases | 0.730 | 1.000 | 4 | 2008 | 2016 | |||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
Neoplasms; Respiratory Tract Diseases | 0.730 | 1.000 | 4 | 2008 | 2016 | |||||||
|
0.882 | 0.120 | 22 | 28734664 | stop gained | G/A | snv | 1.4E-04 | 2.8E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.720 | 1.000 | 4 | 2014 | 2016 | ||||||
|
0.925 | 0.080 | 22 | 28725338 | missense variant | T/C | snv | 1.2E-04 | 9.1E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 18 | 2002 | 2019 | ||||||
|
0.790 | 0.240 | 22 | 28725254 | missense variant | G/A;T | snv | 5.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.710 | 1.000 | 4 | 2001 | 2012 | |||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.710 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.710 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
Digestive System Diseases; Neoplasms | 0.710 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.827 | 0.200 | 22 | 28725278 | stop gained | G/A;C | snv | 2.4E-05 | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 32 | 2001 | 2016 | |||||||
|
1.000 | 0.160 | 22 | 28695868 | frameshift variant | AG/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 22 | 1999 | 2014 | ||||||||
|
0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 21 | 1999 | 2017 | ||||||
|
0.763 | 0.280 | 22 | 28695219 | missense variant | G/A | snv | 4.9E-04 | 2.6E-04 |
|
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 | 18 | 2005 | 2018 | ||||||
|
1.000 | 0.080 | 22 | 28694066 | missense variant | G/A;C;T | snv | 3.3E-04 | 3.1E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 17 | 1999 | 2018 | ||||||
|
0.790 | 0.240 | 22 | 28725254 | missense variant | G/A;T | snv | 5.2E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 15 | 2001 | 2016 | |||||||
|
1.000 | 0.080 | 22 | 28695874 | splice acceptor variant | C/A;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 14 | 2001 | 2015 | ||||||||
|
0.851 | 0.200 | 22 | 28725242 | splice donor variant | C/A;T | snv | 4.0E-06; 1.3E-04 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 14 | 2003 | 2017 | |||||||
|
0.925 | 0.080 | 22 | 28725338 | missense variant | T/C | snv | 1.2E-04 | 9.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 11 | 2003 | 2017 |