POMP, proteasome maturation protein, 51371

N. diseases: 66; N. variants: 6
Disease: Immunologic Deficiency Syndromes ×
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: rs1555257073
rs1555257073 		0.827 0.120 13 28672407 frameshift variant AT/- delins
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		Immune System Diseases 0.700 0