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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 51065532 | missense variant | C/A | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 7 | 1996 | 2007 | ||||||||||
|
18 | 51078417 | missense variant | G/T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 7 | 1996 | 2007 | ||||||||||
|
18 | 51065555 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 2007 | 2013 | ||||||||||
|
18 | 51065392 | intron variant | G/A | snv | 1.1E-02 | 4.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
18 | 51065392 | intron variant | G/A | snv | 1.1E-02 | 4.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
18 | 51046270 | intron variant | C/A;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
18 | 51084461 | 3 prime UTR variant | A/C;G;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
18 | 51048711 | frameshift variant | AT/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
18 | 51058208 | frameshift variant | A/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
18 | 51058449 | splice donor variant | -/CATTACTG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
18 | 51058455 | frameshift variant | C/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
18 | 51059865 | splice acceptor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
18 | 51059866 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
18 | 51065489 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
18 | 51067079 | frameshift variant | -/T | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
18 | 51067118 | stop gained | CTT/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
18 | 51076746 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
18 | 51058245 | splice donor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
18 | 51076673 | frameshift variant | GCGGCTACTGCACAAGCTGCAGCAG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
18 | 51076674 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
18 | 51067135 | frameshift variant | -/CG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
18 | 51067120 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
18 | 51059892 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
18 | 51048733 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
18 | 51078392 | frameshift variant | -/TT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 |