rs1426175410, GATA2

N. diseases: 3
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.
Emberger Syndrome
CUI: C3279664
Disease: Emberger Syndrome
15 0.925 0.040 3 128481881 missense variant G/A;C snv 7.0E-06 0.700 1.000 7 2011 2016
GATA2 Deficiency
CUI: C3280030
Disease: GATA2 Deficiency
18 0.925 0.040 3 128481881 missense variant G/A;C snv 7.0E-06 0.700 1.000 7 2011 2016
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
CUI: C3275959
Disease: LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
7 0.925 0.040 3 128481881 missense variant G/A;C snv 7.0E-06 0.700 0