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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 43575449 | missense variant | T/C | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
19 | 43546079 | missense variant | G/T | snv | 3.0E-04 | 4.3E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
19 | 43574077 | intron variant | ATTTT/- | delins | 5.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.100 | 0.878 | 49 | 2001 | 2019 | ||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.100 | 0.878 | 49 | 2001 | 2019 | ||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
Neoplasms; Respiratory Tract Diseases | 0.100 | 0.921 | 38 | 2003 | 2019 | ||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
Neoplasms; Respiratory Tract Diseases | 0.100 | 0.921 | 38 | 2003 | 2019 | ||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
Neoplasms; Respiratory Tract Diseases | 0.100 | 0.921 | 38 | 2003 | 2019 | ||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.100 | 0.960 | 25 | 2004 | 2016 | ||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
Neoplasms; Respiratory Tract Diseases | 0.100 | 0.960 | 25 | 2004 | 2017 | ||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
Digestive System Diseases; Neoplasms | 0.100 | 0.833 | 24 | 2004 | 2016 | ||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
Digestive System Diseases; Neoplasms | 0.100 | 0.842 | 19 | 2009 | 2020 | ||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
Digestive System Diseases; Neoplasms | 0.100 | 0.750 | 16 | 2002 | 2018 | ||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
Neoplasms | 0.100 | 0.813 | 16 | 2003 | 2018 | ||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
Digestive System Diseases; Neoplasms | 0.100 | 0.750 | 16 | 2002 | 2018 | ||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
Neoplasms | 0.100 | 0.800 | 15 | 2003 | 2017 | ||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.100 | 0.867 | 15 | 2004 | 2015 | |||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
Neoplasms | 0.100 | 0.933 | 15 | 2010 | 2017 | ||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.100 | 0.615 | 13 | 2004 | 2016 | ||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.100 | 0.615 | 13 | 2004 | 2016 | ||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.100 | 0.833 | 12 | 2005 | 2019 | ||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.100 | 0.583 | 12 | 2004 | 2016 | ||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
Neoplasms; Male Urogenital Diseases | 0.100 | 0.900 | 10 | 2004 | 2018 | ||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
Neoplasms; Male Urogenital Diseases | 0.100 | 0.900 | 10 | 2004 | 2018 | ||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.100 | 1.000 | 10 | 2007 | 2015 |