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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 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 | |||||||
|
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 | |||||||
|
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 | |||||||
|
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 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 12 | 1995 | 2015 | |||||||
|
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 | 21970982 | missense variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.700 | 1.000 | 12 | 1994 | 2015 | ||||||||
|
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 | 21971109 | missense variant | C/A;T | snv | 4.3E-06 |
|
0.700 | 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 | |||||||||
|
0.925 | 0.040 | 9 | 21971007 | missense variant | C/T | snv |
|
0.700 | 1.000 | 12 | 1994 | 2009 | |||||||||
|
9 | 21971153 | missense variant | T/C | snv | 9.5E-06 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 12 | 1998 | 2015 | ||||||||
|
0.925 | 0.120 | 9 | 21971147 | missense variant | T/C;G | snv | 4.7E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 12 | 1994 | 2011 | |||||||
|
1.000 | 9 | 21974679 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 12 | 1994 | 2009 | |||||||||
|
1.000 | 9 | 21974724 | missense variant | C/A;G;T | snv | 4.1E-06; 1.2E-05 |
|
0.700 | 1.000 | 12 | 1994 | 2009 | |||||||||
|
0.882 | 0.200 | 9 | 21971100 | missense variant | G/A | snv | 8.6E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 12 | 1994 | 2016 | ||||||
|
0.882 | 0.200 | 9 | 21971100 | missense variant | G/A | snv | 8.6E-06 | 7.0E-06 |
|
0.700 | 1.000 | 12 | 1994 | 2009 | |||||||
|
0.882 | 0.080 | 9 | 21971160 | missense variant | C/G;T | snv | 4.7E-06; 4.7E-06 |
|
0.700 | 1.000 | 12 | 1994 | 2009 |