SBDS, SBDS ribosome maturation factor, 51119

N. diseases: 105; N. variants: 17
Disease: Recurrent infections ×
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: rs373730800
rs373730800 		0.925 7 66995320 missense variant T/C;G snv 6.0E-05
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases 0.700 0