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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.200 | 7 | 21898622 | intron variant | C/A;T | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.810 | 1.000 | 4 | 2011 | 2014 | ||||||||
|
1.000 | 0.040 | 7 | 21567734 | intron variant | T/C | snv | 0.26 |
|
0.800 | 1.000 | 5 | 2009 | 2019 | ||||||||
|
1.000 | 0.040 | 7 | 21567734 | intron variant | T/C | snv | 0.26 |
|
0.800 | 1.000 | 5 | 2009 | 2018 | ||||||||
|
0.882 | 0.160 | 7 | 21888461 | intron variant | C/A | snv | 0.26 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 2 | 2011 | 2015 | |||||||
|
0.807 | 0.120 | 7 | 21544470 | intron variant | G/A | snv | 0.44 |
|
Neoplasms | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
7 | 21862024 | splice donor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 3 | 2008 | 2012 | ||||||||||
|
1.000 | 0.040 | 7 | 21567734 | intron variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 3 | 2009 | 2013 | ||||||||
|
7 | 21787584 | splice donor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 3 | 2008 | 2012 | ||||||||||
|
1.000 | 0.160 | 7 | 21749702 | stop gained | C/T | snv | 4.4E-05 | 7.7E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 3 | 2012 | 2015 | ||||||
|
7 | 21687528 | splice donor variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 3 | 2008 | 2012 | ||||||||||
|
1.000 | 0.160 | 7 | 21902051 | 3 prime UTR variant | A/C | snv | 0.34 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||||
|
1.000 | 0.160 | 7 | 21892426 | missense variant | C/G;T | snv | 1.8E-04; 0.39 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||||
|
7 | 21702773 | stop gained | C/A;T | snv | 3.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 2 | 2012 | 2015 | |||||||||
|
1.000 | 0.160 | 7 | 21875846 | intron variant | G/A;T | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
1.000 | 0.160 | 7 | 21899764 | intron variant | A/G | snv | 0.22 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||||
|
1.000 | 0.160 | 7 | 21898370 | intron variant | C/G;T | snv | 0.33 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||||
|
7 | 21567665 | intron variant | C/G | snv | 0.16 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | ||||||||||
|
1.000 | 0.160 | 7 | 21888909 | intron variant | T/C | snv | 0.54 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||||
|
7 | 21571781 | intron variant | G/A;C;T | snv | 4.4E-06; 0.17; 4.4E-06 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
1.000 | 0.160 | 7 | 21890138 | intron variant | T/C | snv | 0.22 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||||
|
0.925 | 0.200 | 7 | 21901342 | 3 prime UTR variant | A/G | snv | 0.28 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||||
|
1.000 | 0.160 | 7 | 21867059 | intron variant | C/T | snv | 0.32 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
7 | 21650988 | intron variant | A/G | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.160 | 7 | 21872858 | intron variant | G/A | snv | 0.31 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.160 | 7 | 21880428 | intron variant | G/A | snv | 0.27 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 |