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 | 0.160 | 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 | |||||||
|
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 | 7 | 21927090 | intron variant | A/G | snv | 0.82 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 7 | 21927090 | intron variant | A/G | snv | 0.82 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 7 | 21927090 | intron variant | A/G | snv | 0.82 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 7 | 21927090 | intron variant | A/G | snv | 0.82 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 7 | 21927090 | intron variant | A/G | snv | 0.82 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.160 | 7 | 21901821 | 3 prime UTR variant | A/G | snv | 0.20 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.160 | 7 | 21904567 | intron variant | A/G | snv | 0.24 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.160 | 7 | 21904621 | intron variant | A/G | snv | 0.40 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.200 | 7 | 21901342 | 3 prime UTR variant | A/G | snv | 0.28 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
7 | 21901024 | stop gained | C/G;T | snv | 4.1E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 7 | 21909685 | intron variant | C/T | snv | 0.49 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||||
|
1.000 | 0.160 | 7 | 21906222 | intron variant | C/T | snv | 0.42 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.160 | 7 | 21900862 | intron variant | C/T | snv | 0.15 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
7 | 21901191 | frameshift variant | CGAAGAG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||||
|
1.000 | 0.160 | 7 | 21905945 | intron variant | G/A | snv | 0.22 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
7 | 21901132 | stop gained | G/A;C;T | snv | 2.0E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | 7 | 21901225 | stop lost | GCTCTGCTTCTAGAAGCGTAAGGTAACACTGGCATTCCTCTAGCCTCTGCTGGAGTG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 7 | 21901225 | stop lost | GCTCTGCTTCTAGAAGCGTAAGGTAACACTGGCATTCCTCTAGCCTCTGCTGGAGTG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 7 | 21904989 | intron variant | T/C | snv | 0.25 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 |