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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 6 | 36679512 | intron variant | G/A | snv | 0.20 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
0.851 | 0.280 | 6 | 36677811 | non coding transcript exon variant | A/C;T | snv | 0.37; 2.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.120 | 6 | 36677919 | 5 prime UTR variant | A/G | snv | 0.43 | 0.49 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.689 | 0.400 | 6 | 36684194 | missense variant | C/A;T | snv | 0.15; 4.4E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 1997 | 2006 | |||||||
|
1.000 | 0.080 | 6 | 36684381 | missense variant | C/T | snv | 8.1E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 1996 | 1996 | |||||||
|
0.925 | 0.080 | 6 | 36681039 | intron variant | A/T | snv | 0.54 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 6 | 36676721 | intron variant | T/C | snv | 0.60 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.120 | 6 | 36677426 | intron variant | T/C | snv | 0.41 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 6 | 36684145 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||||||
|
0.689 | 0.400 | 6 | 36684194 | missense variant | C/A;T | snv | 0.15; 4.4E-05 |
|
Neoplasms; Respiratory Tract Diseases | 0.020 | 0.500 | 2 | 2007 | 2011 | |||||||
|
0.689 | 0.400 | 6 | 36684194 | missense variant | C/A;T | snv | 0.15; 4.4E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.020 | 0.500 | 2 | 2012 | 2016 | |||||||
|
0.790 | 0.120 | 6 | 36685820 | 3 prime UTR variant | C/T | snv | 0.15 | 0.13 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.807 | 0.120 | 6 | 36684562 | intron variant | C/A;G;T | snv | 8.0E-06; 0.37; 2.0E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.689 | 0.400 | 6 | 36684194 | missense variant | C/A;T | snv | 0.15; 4.4E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.020 | 0.500 | 2 | 2012 | 2016 | |||||||
|
0.790 | 0.120 | 6 | 36685820 | 3 prime UTR variant | C/T | snv | 0.15 | 0.13 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.807 | 0.120 | 6 | 36684562 | intron variant | C/A;G;T | snv | 8.0E-06; 0.37; 2.0E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.689 | 0.400 | 6 | 36684194 | missense variant | C/A;T | snv | 0.15; 4.4E-05 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.790 | 0.120 | 6 | 36685820 | 3 prime UTR variant | C/T | snv | 0.15 | 0.13 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||
|
0.807 | 0.120 | 6 | 36684562 | intron variant | C/A;G;T | snv | 8.0E-06; 0.37; 2.0E-05 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.807 | 0.120 | 6 | 36684562 | intron variant | C/A;G;T | snv | 8.0E-06; 0.37; 2.0E-05 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.160 | 6 | 36677689 | non coding transcript exon variant | G/A | snv | 0.12 |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.120 | 6 | 36677919 | 5 prime UTR variant | A/G | snv | 0.43 | 0.49 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.882 | 0.120 | 6 | 36677426 | intron variant | T/C | snv | 0.41 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.280 | 6 | 36677811 | non coding transcript exon variant | A/C;T | snv | 0.37; 2.4E-05 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.689 | 0.400 | 6 | 36684194 | missense variant | C/A;T | snv | 0.15; 4.4E-05 |
|
Neoplasms; Infections | 0.010 | 1.000 | 1 | 2011 | 2011 |