NOP53, NOP53 ribosome biogenesis factor, 29997

N. diseases: 69; N. variants: 1
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: rs763555172
rs763555172 		1.000 0.080 19 47747016 frameshift variant G/- delins 1.6E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009