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: rs386134134
rs386134134 		1.000 0.080 3 149221646 splice donor variant C/A;T snv
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386134135
rs386134135 		1.000 0.080 3 149210380 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386134136
rs386134136 		1.000 0.080 3 149210166 splice donor variant C/T snv
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386134137
rs386134137 		1.000 0.080 3 149202243 splice acceptor variant T/C snv 7.0E-06
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386134138
rs386134138 		1.000 0.080 3 149202239 splice acceptor variant -/AC delins
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386134139
rs386134139 		1.000 0.080 3 149186733 splice acceptor variant C/T snv
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386134140
rs386134140 		1.000 0.080 3 149182004 splice donor variant C/A snv
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386134141
rs386134141 		0.925 0.120 3 149177980 splice acceptor variant C/A;T snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs386134141
rs386134141 		0.925 0.120 3 149177980 splice acceptor variant C/A;T snv
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386134141
rs386134141 		0.925 0.120 3 149177980 splice acceptor variant C/A;T snv
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs386134142
rs386134142 		0.925 0.080 3 149176413 splice acceptor variant C/T snv
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386134142
rs386134142 		0.925 0.080 3 149176413 splice acceptor variant C/T snv
CUI: C1858583
Disease: HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA
HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs386134143
rs386134143 		0.925 0.080 3 149210167 frameshift variant -/T delins 1.2E-05
CUI: C1858583
Disease: HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA
HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs386134143
rs386134143 		0.925 0.080 3 149210167 frameshift variant -/T delins 1.2E-05
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386134144
rs386134144 		1.000 0.080 3 149202192 frameshift variant AA/- del
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386134145
rs386134145 		0.925 0.080 3 149202163 frameshift variant -/GTGTA delins 4.0E-06
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386134145
rs386134145 		0.925 0.080 3 149202163 frameshift variant -/GTGTA delins 4.0E-06
CUI: C1858583
Disease: HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA
HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs386134146
rs386134146 		1.000 0.080 3 149186679 frameshift variant C/- del
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386134148
rs386134148 		1.000 0.080 3 149186529 frameshift variant C/- del
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386134149
rs386134149 		1.000 0.080 3 149183502 frameshift variant C/- delins
CUI: C4017428
Disease: CERULOPLASMIN BELFAST PHENOTYPE
CERULOPLASMIN BELFAST PHENOTYPE 		0.700 0
dbSNP: rs386134149
rs386134149 		1.000 0.080 3 149183502 frameshift variant C/- delins
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386134150
rs386134150 		1.000 0.080 3 149182077 frameshift variant C/- delins
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386134151
rs386134151 		1.000 0.080 3 149182047 frameshift variant -/A delins
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386134152
rs386134152 		1.000 0.080 3 149179614 frameshift variant C/- delins
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386134153
rs386134153 		1.000 0.080 3 149178603 frameshift variant AG/- del 7.0E-06
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0