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: rs387906631
rs387906631
GATA2
6 0.882 0.080 3 128481901 missense variant G/A snv 0.800 1.000 4 2011 2015
dbSNP: rs387906629
rs387906629
GATA2
3 0.925 0.080 3 128481270 missense variant G/A snv 0.800 1.000 1 2011 2011
dbSNP: rs387906630
rs387906630
GATA2
1 1.000 0.040 3 128485837 missense variant G/A;C 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: rs387906632
rs387906632
GATA2
2 0.925 0.040 3 128483868 stop gained G/A snv 0.700 1.000 3 2011 2017
dbSNP: rs1553770978
rs1553770978
GATA2
1 1.000 0.040 3 128486072 missense variant T/G snv 0.700 1.000 1 2018 2018
dbSNP: rs1553770434
rs1553770434
GATA2
2 0.925 0.040 3 128481275 missense variant C/T snv 0.700 0
dbSNP: rs1553770655
rs1553770655
GATA2
1 1.000 0.040 3 128483320 intron variant TGCAGATGTCCGGATAGGAAACTCCGGC/- delins 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: rs768767517
rs768767517
GATA2
1 1.000 0.040 3 128485999 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs869320668
rs869320668
GATA2
1 1.000 0.040 3 128481945 splice acceptor variant C/A snv 0.700 0
dbSNP: rs869320734
rs869320734
GATA2
1 1.000 0.040 3 128481867 inframe deletion TTGGCGTTTCGG/- delins 0.700 0
dbSNP: rs869320735
rs869320735
GATA2
1 1.000 0.040 3 128486355 frameshift variant T/GC delins 0.700 0
dbSNP: rs869320770
rs869320770
GATA2
2 0.925 0.040 3 128481937 splice acceptor variant -/GCCG delins 0.700 0