Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387906631
rs387906631
GATA2
0.882 0.080 3 128481901 missense variant G/A snv
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.820 1.000 1 2011 2012
dbSNP: rs387906629
rs387906629
GATA2
0.925 0.080 3 128481270 missense variant G/A snv
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 1.000 1 2011 2011
dbSNP: rs387906630
rs387906630
GATA2
1.000 0.040 3 128485837 missense variant G/A;C snv
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 1.000 1 2011 2011
dbSNP: rs387906631
rs387906631
GATA2
0.882 0.080 3 128481901 missense variant G/A snv
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 1.000 1 2011 2015
dbSNP: rs387906633
rs387906633
GATA2
1.000 0.040 3 128481845 missense variant A/G snv
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.800 1.000 1 2011 2011