rs398124627, GATA1

N. diseases: 1
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.
Leukemia, Megakaryoblastic, of Down Syndrome
CUI: C1860789
Disease: Leukemia, Megakaryoblastic, of Down Syndrome
1 1.000 0.120 X 48791292 frameshift variant -/TACT delins 0.700 0