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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.200 | 9 | 21971058 | missense variant | C/A;G;T | snv | 8.5E-06; 4.3E-06 |
|
0.800 | 1.000 | 12 | 1994 | 2009 | ||||||||
|
0.827 | 0.120 | 9 | 21971200 | missense variant | C/G;T | snv | 9.0E-06 |
|
0.800 | 1.000 | 12 | 1994 | 2009 | ||||||||
|
0.807 | 0.240 | 9 | 21974757 | missense variant | C/A;G;T | snv | 1.7E-05; 1.3E-05 |
|
0.800 | 1.000 | 12 | 1994 | 2009 | ||||||||
|
0.851 | 0.200 | 9 | 21970982 | missense variant | A/T | snv |
|
0.800 | 1.000 | 12 | 1994 | 2009 | |||||||||
|
0.851 | 0.200 | 9 | 21971183 | missense variant | A/C;T | snv | 4.6E-06 |
|
0.800 | 1.000 | 12 | 1994 | 2009 | ||||||||
|
1.000 | 9 | 21971094 | missense variant | C/T | snv | 4.3E-06 |
|
0.800 | 1.000 | 12 | 1994 | 2009 | |||||||||
|
0.882 | 0.080 | 9 | 21971093 | missense variant | C/G;T | snv |
|
0.800 | 1.000 | 12 | 1994 | 2009 | |||||||||
|
0.882 | 0.120 | 9 | 21971099 | missense variant | C/G;T | snv |
|
0.800 | 1.000 | 12 | 1994 | 2009 | |||||||||
|
0.763 | 0.200 | 9 | 21971058 | missense variant | C/A;G;T | snv | 8.5E-06; 4.3E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.800 | 1.000 | 11 | 1994 | 2016 | |||||||
|
0.763 | 0.200 | 9 | 21971058 | missense variant | C/A;G;T | snv | 8.5E-06; 4.3E-06 |
|
Neoplasms | 0.800 | 1.000 | 10 | 1999 | 2016 | |||||||
|
9 | 21986848 | intron variant | T/A | snv | 0.74 |
|
0.800 | 1.000 | 2 | 2011 | 2016 | ||||||||||
|
0.925 | 0.080 | 9 | 21970995 | missense variant | C/G;T | snv |
|
0.800 | 0 | ||||||||||||
|
0.807 | 0.240 | 9 | 21974757 | missense variant | C/A;G;T | snv | 1.7E-05; 1.3E-05 |
|
Neoplasms | 0.750 | 1.000 | 5 | 1995 | 2015 | |||||||
|
0.882 | 0.120 | 9 | 21971099 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 9 | 1994 | 2013 | ||||||||
|
0.851 | 0.200 | 9 | 21970982 | missense variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 7 | 1995 | 2013 | ||||||||
|
0.882 | 0.200 | 9 | 21974760 | missense variant | C/T | snv |
|
Neoplasms | 0.710 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.807 | 0.240 | 9 | 21974757 | missense variant | C/A;G;T | snv | 1.7E-05; 1.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 19 | 1995 | 2015 | |||||||
|
0.827 | 0.120 | 9 | 21971200 | missense variant | C/G;T | snv | 9.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 16 | 1995 | 2010 | |||||||
|
0.807 | 0.240 | 9 | 21974757 | missense variant | C/A;G;T | snv | 1.7E-05; 1.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 16 | 1995 | 2015 | |||||||
|
1.000 | 0.120 | 9 | 21971116 | frameshift variant | GTGAGAGTGGCGGGGTCGG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 15 | 1995 | 2015 | ||||||||
|
0.925 | 0.120 | 9 | 21974733 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 15 | 1995 | 2010 | ||||||||
|
0.882 | 0.160 | 9 | 21974682 | missense variant | A/C;G | snv | 6.3E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 14 | 1994 | 2016 | |||||||
|
1.000 | 0.120 | 9 | 21971021 | inframe insertion | -/ACG | delins | 1.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 14 | 1996 | 2016 | |||||||
|
0.807 | 0.240 | 9 | 21974757 | missense variant | C/A;G;T | snv | 1.7E-05; 1.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.700 | 1.000 | 13 | 1998 | 2016 | |||||||
|
0.851 | 0.240 | 9 | 21974861 | 5 prime UTR variant | C/A;G;T | snv | 4.3E-05; 6.1E-05; 8.7E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 13 | 1999 | 2016 |