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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.200 | 13 | 32394803 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.810 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.790 | 0.240 | 13 | 32380043 | missense variant | C/T | snv | 1.2E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 25 | 1997 | 2014 | |||||||
|
0.827 | 0.280 | 13 | 32346896 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 6 | 2002 | 2013 | |||||||
|
0.763 | 0.320 | 13 | 32363369 | missense variant | G/A;C | snv | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 5 | 2004 | 2014 | |||||||
|
13 | 32379251 | intron variant | T/C | snv | 0.52 |
|
0.800 | 1.000 | 3 | 2013 | 2018 | ||||||||||
|
1.000 | 0.120 | 13 | 32356521 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.763 | 0.320 | 13 | 32362596 | missense variant | A/G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.800 | 0 | |||||||||||
|
0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 |
|
Neoplasms; Respiratory Tract Diseases | 0.750 | 0.857 | 7 | 2014 | 2018 | ||||||
|
0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 |
|
Neoplasms; Respiratory Tract Diseases | 0.750 | 0.800 | 5 | 2014 | 2018 | ||||||
|
0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.740 | 0.875 | 8 | 2013 | 2017 | ||||||
|
0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.740 | 0.800 | 5 | 2013 | 2016 | ||||||
|
0.827 | 0.240 | 13 | 32363389 | missense variant | G/A;T | snv | 7.9E-04 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.730 | 1.000 | 3 | 2003 | 2017 | |||||||
|
0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 |
|
Neoplasms; Respiratory Tract Diseases | 0.720 | 1.000 | 3 | 2015 | 2019 | ||||||
|
0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.720 | 1.000 | 3 | 2016 | 2018 | ||||||
|
0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 |
|
Neoplasms | 0.720 | 1.000 | 3 | 2014 | 2018 | ||||||
|
0.925 | 0.080 | 13 | 32339667 | missense variant | G/A;T | snv | 3.4E-04; 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 21 | 1997 | 2016 | |||||||
|
0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 |
|
Neoplasms; Male Urogenital Diseases | 0.710 | 1.000 | 2 | 2016 | 2016 | ||||||
|
0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 |
|
Neoplasms; Respiratory Tract Diseases | 0.710 | 1.000 | 2 | 2017 | 2018 | ||||||
|
0.827 | 0.280 | 13 | 32346896 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.763 | 0.280 | 13 | 32340146 | stop gained | C/T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.742 | 0.440 | 13 | 32340212 | stop gained | G/T | snv | 8.0E-06 |
|
Neoplasms; Male Urogenital Diseases | 0.710 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.160 | 13 | 32370430 | missense variant | G/A | snv | 3.2E-05 | 2.1E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.925 | 0.080 | 13 | 32319100 | missense variant | T/C;G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.200 | 13 | 32394717 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 7.6E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 1 | 1996 | 1996 | |||||||
|
0.752 | 0.440 | 13 | 32379913 | splice region variant | G/A;C;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 41 | 1997 | 2017 |