rs387906632, GATA2

N. diseases: 2
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 128483868 stop gained G/A snv 0.700 1.000 3 2011 2017
GATA2 Deficiency
CUI: C3280030
Disease: GATA2 Deficiency
18 0.925 0.040 3 128483868 stop gained G/A snv 0.700 1.000 3 2011 2017