UMPS, uridine monophosphate synthetase, 7372

N. diseases: 102; N. variants: 8
Disease: Neutropenia ×
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: rs1801019
rs1801019 		0.882 0.080 3 124737895 missense variant G/A;C snv 4.0E-06; 0.19
CUI: C0027947
Disease: Neutropenia
Neutropenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006