Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387906633
rs387906633
GATA2
1 1.000 0.040 3 128481845 missense variant A/G snv 0.800 1.000 1 2011 2011
dbSNP: rs1426175410
rs1426175410
GATA2
3 0.925 0.040 3 128481881 missense variant G/A;C snv 7.0E-06 0.700 1.000 7 2011 2016
dbSNP: rs1559985787
rs1559985787
GATA2
2 0.925 0.040 3 128483288 intron variant G/A snv 0.700 1.000 4 2013 2016
dbSNP: rs387906631
rs387906631
GATA2
6 0.882 0.080 3 128481901 missense variant G/A snv 0.700 1.000 4 2011 2015
dbSNP: rs387906632
rs387906632
GATA2
2 0.925 0.040 3 128483868 stop gained G/A snv 0.700 1.000 3 2011 2017
dbSNP: rs867160952
rs867160952
GATA2
1 1.000 0.040 3 128481877 missense variant C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs1553770434
rs1553770434
GATA2
2 0.925 0.040 3 128481275 missense variant C/T snv 0.700 0
dbSNP: rs1553770510
rs1553770510
GATA2
2 1.000 0.040 3 128481878 stop gained G/A snv 0.700 0
dbSNP: rs1553770949
rs1553770949
GATA2
2 0.925 0.040 3 128485944 stop gained -/GTCAG delins 0.700 0
dbSNP: rs1559986109
rs1559986109
GATA2
2 0.925 0.040 3 128483973 frameshift variant -/TGGCCCCACAGTTG delins 0.700 0
dbSNP: rs1559986946
rs1559986946
GATA2
2 0.925 0.040 3 128485779 frameshift variant -/C delins 0.700 0
dbSNP: rs376003468
rs376003468
GATA2
2 0.925 0.040 3 128481849 missense variant G/A;T snv 5.2E-05 0.700 0
dbSNP: rs387906634
rs387906634
GATA2
1 1.000 0.040 3 128481880 missense variant C/A snv 0.700 0
dbSNP: rs863224874
rs863224874
GATA2
1 1.000 0.040 3 128481836 frameshift variant -/GAGG delins 0.700 0
dbSNP: rs869320770
rs869320770
GATA2
2 0.925 0.040 3 128481937 splice acceptor variant -/GCCG delins 0.700 0