GATA2, GATA binding protein 2, 2624
N. diseases: 229; N. variants: 33
Source: ALL
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 | 0.080 | 3 | 128481901 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.800 | 1.000 | 4 | 2011 | 2015 | ||||||||
|
0.925 | 0.080 | 3 | 128481270 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 3 | 128485837 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.040 | 3 | 128481881 | missense variant | G/A;C | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 7 | 2011 | 2016 | |||||||
|
0.925 | 0.040 | 3 | 128483288 | intron variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 4 | 2013 | 2016 | ||||||||
|
0.925 | 0.040 | 3 | 128483868 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 3 | 2011 | 2017 | ||||||||
|
1.000 | 0.040 | 3 | 128486072 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 3 | 128481275 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 3 | 128483320 | intron variant | TGCAGATGTCCGGATAGGAAACTCCGGC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 3 | 128485944 | stop gained | -/GTCAG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 3 | 128483973 | frameshift variant | -/TGGCCCCACAGTTG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 3 | 128485779 | frameshift variant | -/C | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 3 | 128481849 | missense variant | G/A;T | snv | 5.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 3 | 128485999 | frameshift variant | C/-;CC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 3 | 128481945 | splice acceptor variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 3 | 128481867 | inframe deletion | TTGGCGTTTCGG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 3 | 128486355 | frameshift variant | T/GC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 3 | 128481937 | splice acceptor variant | -/GCCG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 |