Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553770949
rs1553770949
GATA2
0.925 0.040 3 128485944 stop gained -/GTCAG delins
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.700 0