GATA2, GATA binding protein 2, 2624

N. diseases: 229; N. variants: 33
Disease: Emberger Syndrome ×
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.
dbSNP: rs387906633
rs387906633 		1.000 0.040 3 128481845 missense variant A/G snv
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 1 2011 2011
dbSNP: rs1426175410
rs1426175410 		0.925 0.040 3 128481881 missense variant G/A;C snv 7.0E-06
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 7 2011 2016
dbSNP: rs1559985787
rs1559985787 		0.925 0.040 3 128483288 intron variant G/A snv
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 4 2013 2016
dbSNP: rs387906631
rs387906631 		0.882 0.080 3 128481901 missense variant G/A snv
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 4 2011 2015
dbSNP: rs387906632
rs387906632 		0.925 0.040 3 128483868 stop gained G/A snv
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 2011 2017
dbSNP: rs867160952
rs867160952 		1.000 0.040 3 128481877 missense variant C/T snv
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2011 2011
dbSNP: rs1553770434
rs1553770434 		0.925 0.040 3 128481275 missense variant C/T snv
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1553770510
rs1553770510 		1.000 0.040 3 128481878 stop gained G/A snv
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1553770949
rs1553770949 		0.925 0.040 3 128485944 stop gained -/GTCAG delins
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1559986109
rs1559986109 		0.925 0.040 3 128483973 frameshift variant -/TGGCCCCACAGTTG delins
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1559986946
rs1559986946 		0.925 0.040 3 128485779 frameshift variant -/C delins
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs376003468
rs376003468 		0.925 0.040 3 128481849 missense variant G/A;T snv 5.2E-05
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs387906634
rs387906634 		1.000 0.040 3 128481880 missense variant C/A snv
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs863224874
rs863224874 		1.000 0.040 3 128481836 frameshift variant -/GAGG delins
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs869320770
rs869320770 		0.925 0.040 3 128481937 splice acceptor variant -/GCCG delins
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0