Source: ALL

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 2 2011 2012
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 4 2011 2015
dbSNP: rs387906631
rs387906631
GATA2
0.882 0.080 3 128481901 missense variant G/A snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.720 1.000 3 2011 2012
dbSNP: rs387906631
rs387906631
GATA2
0.882 0.080 3 128481901 missense variant G/A snv
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.700 1.000 4 2011 2015
dbSNP: rs387906631
rs387906631
GATA2
0.882 0.080 3 128481901 missense variant G/A snv
CUI: C3275959
Disease: LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs387906631
rs387906631
GATA2
0.882 0.080 3 128481901 missense variant G/A snv
CUI: C0026499
Disease: Monosomy
Monosomy 		0.010 1.000 1 2012 2012