rs376003468, 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 128481849 missense variant G/A;T snv 5.2E-05 0.700 0
GATA2 Deficiency
CUI: C3280030
Disease: GATA2 Deficiency
18 0.925 0.040 3 128481849 missense variant G/A;T snv 5.2E-05 0.700 0