rs387906631, GATA2

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
95 0.882 0.080 3 128481901 missense variant G/A snv 0.820 1.000 2 2011 2012
GATA2 Deficiency
CUI: C3280030
Disease: GATA2 Deficiency
18 0.882 0.080 3 128481901 missense variant G/A snv 0.800 1.000 4 2011 2015
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.882 0.080 3 128481901 missense variant G/A snv 0.720 1.000 3 2011 2012
Emberger Syndrome
CUI: C3279664
Disease: Emberger Syndrome
15 0.882 0.080 3 128481901 missense variant G/A snv 0.700 1.000 4 2011 2015
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
7 0.882 0.080 3 128481901 missense variant G/A snv 0.700 0
Monosomy
CUI: C0026499
Disease: Monosomy
11 0.882 0.080 3 128481901 missense variant G/A snv 0.010 1.000 1 2012 2012