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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.870 | 1.000 | 12 | 2004 | 2019 | |||||||
|
0.807 | 0.200 | 17 | 43063903 | missense variant | G/A;C;T | snv | 2.8E-05; 4.0E-06; 2.0E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.810 | 0.833 | 6 | 2002 | 2014 | |||||||
|
0.763 | 0.280 | 17 | 43063931 | missense variant | G/A;T | snv | 2.4E-05; 8.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.810 | 1.000 | 6 | 2004 | 2014 | |||||||
|
0.827 | 0.200 | 17 | 43082434 | stop gained | G/A;C | snv | 2.4E-05; 3.2E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 25 | 1994 | 2017 | |||||||
|
0.882 | 0.200 | 17 | 43076488 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 25 | 1994 | 2017 | |||||||
|
0.827 | 0.200 | 17 | 43049188 | missense variant | A/C;G;T | snv | 8.0E-06 |
|
0.800 | 1.000 | 16 | 2003 | 2017 | ||||||||
|
0.851 | 0.200 | 17 | 43057122 | missense variant | A/C;G;T | snv |
|
0.800 | 1.000 | 3 | 2013 | 2018 | |||||||||
|
0.763 | 0.280 | 17 | 43063931 | missense variant | G/A;T | snv | 2.4E-05; 8.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.800 | 0 | ||||||||||
|
0.763 | 0.280 | 17 | 43063931 | missense variant | G/A;T | snv | 2.4E-05; 8.0E-06 |
|
0.800 | 0 | |||||||||||
|
0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.770 | 1.000 | 7 | 2005 | 2019 | |||||||
|
0.807 | 0.160 | 17 | 43104122 | missense variant | C/A;G | snv | 1.2E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.740 | 0.958 | 24 | 1994 | 2017 | |||||||
|
0.763 | 0.280 | 17 | 43063930 | missense variant | C/A;G;T | snv | 2.4E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.730 | 1.000 | 23 | 1994 | 2019 | |||||||
|
0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.730 | 1.000 | 3 | 2006 | 2010 | |||||||
|
0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.730 | 1.000 | 3 | 2006 | 2010 | |||||||
|
0.790 | 0.280 | 17 | 43051071 | missense variant | A/C;T | snv | 1.2E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 21 | 1994 | 2017 | |||||||
|
0.851 | 0.120 | 17 | 43104138 | missense variant | G/T | snv | 1.0E-04 | 4.2E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 21 | 1994 | 2017 | ||||||
|
0.925 | 0.080 | 17 | 43047699 | stop gained | A/T | snv | 9.9E-05 | 2.0E-04 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 21 | 1994 | 2017 | ||||||
|
0.882 | 0.200 | 17 | 43097266 | missense variant | C/T | snv | 3.0E-04 | 2.2E-04 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 0.952 | 21 | 1994 | 2017 | ||||||
|
0.882 | 0.200 | 17 | 43106478 | stop lost | A/C;G | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases | 0.710 | 1.000 | 19 | 1994 | 2015 | |||||||
|
0.763 | 0.240 | 17 | 43106457 | missense variant | T/C | snv | 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 | 0.710 | 1.000 | 16 | 1999 | 2014 | |||||||
|
0.851 | 0.200 | 17 | 43106480 | stop gained | A/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases | 0.710 | 1.000 | 11 | 1995 | 2019 | ||||||||
|
0.882 | 0.200 | 17 | 43091891 | stop gained | C/A;T | snv | 9.9E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases | 0.710 | 1.000 | 10 | 1996 | 2014 | |||||||
|
0.763 | 0.280 | 17 | 43063930 | missense variant | C/A;G;T | snv | 2.4E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.710 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.752 | 0.200 | 17 | 43093844 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.752 | 0.200 | 17 | 43093844 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 1 | 2003 | 2003 |