GATA2, GATA binding protein 2, 2624

N. diseases: 229; N. variants: 33
Disease: GATA2 Deficiency ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553770655
rs1553770655 		1.000 0.040 3 128483320 intron variant TGCAGATGTCCGGATAGGAAACTCCGGC/- delins
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0