CP, ceruloplasmin, 1356

N. diseases: 283; N. variants: 64
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: rs386134121
rs386134121
1.000 0.080 3 149221711 missense variant T/A snv
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency
Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0