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.
dbSNP: rs387906631
rs387906631 		0.882 0.080 3 128481901 missense variant G/A snv
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.820 1.000 2 2011 2012
dbSNP: rs387906631
rs387906631 		0.882 0.080 3 128481901 missense variant G/A snv
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 4 2011 2015
dbSNP: rs387906629
rs387906629 		0.925 0.080 3 128481270 missense variant G/A snv
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 1 2011 2011
dbSNP: rs387906630
rs387906630 		1.000 0.040 3 128485837 missense variant G/A;C snv
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 1 2011 2011
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: rs387906631
rs387906631 		0.882 0.080 3 128481901 missense variant G/A snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.720 1.000 3 2011 2012
dbSNP: rs1426175410
rs1426175410 		0.925 0.040 3 128481881 missense variant G/A;C snv 7.0E-06
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 7 2011 2016
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: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 4 2013 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: rs387906632
rs387906632 		0.925 0.040 3 128483868 stop gained G/A snv
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 2011 2017
dbSNP: rs387906629
rs387906629 		0.925 0.080 3 128481270 missense variant G/A snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 2 2011 2012
dbSNP: rs1553770978
rs1553770978 		1.000 0.040 3 128486072 missense variant T/G snv
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2018 2018
dbSNP: rs55914222
rs55914222 		3 128484100 intron variant G/A;C snv
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2019 2019
dbSNP: rs62270945
rs62270945 		3 128483046 intron variant C/T snv 1.8E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 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: rs1426175410
rs1426175410 		0.925 0.040 3 128481881 missense variant G/A;C snv 7.0E-06
CUI: C3275959
Disease: LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO 		0.700 0
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: rs1553770434
rs1553770434 		0.925 0.040 3 128481275 missense variant C/T snv
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		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: rs1553770510
rs1553770510 		1.000 0.040 3 128481878 stop gained G/A snv
CUI: C3275959
Disease: LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1553770655
rs1553770655 		1.000 0.040 3 128483320 intron variant TGCAGATGTCCGGATAGGAAACTCCGGC/- delins
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		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