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: 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: rs1553761391
rs1553761391 		1.000 0.080 3 149198573 splice acceptor variant -/AC delins
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: rs1559935542
rs1559935542 		1.000 0.080 3 149178590 frameshift variant -/C delins
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: 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: rs386134154
rs386134154 		1.000 0.080 3 149177940 frameshift variant -/T delins
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs34394958
rs34394958 		1.000 0.080 3 149177867 missense variant A/C;G snv 3.3E-02
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2002 2002
dbSNP: rs386134123
rs386134123 		1.000 0.080 3 149210226 missense variant A/C;G snv 4.0E-06; 4.0E-06
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs17838832
rs17838832 		1.000 0.160 3 149222146 upstream gene variant A/G snv 6.9E-02
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs386134125
rs386134125 		1.000 0.080 3 149209342 missense variant A/G snv
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2004 2004
dbSNP: rs7652826
rs7652826 		1.000 0.040 3 149221163 intron variant A/G snv 0.43
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1135401784
rs1135401784 		0.925 0.120 3 149178537 missense variant A/G snv
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1135401784
rs1135401784 		0.925 0.120 3 149178537 missense variant A/G 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: rs1135401784
rs1135401784 		0.925 0.120 3 149178537 missense variant A/G snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs397507168
rs397507168 		0.925 0.200 3 149163840 splice acceptor variant A/G snv 8.0E-06
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs397507168
rs397507168 		0.925 0.200 3 149163840 splice acceptor variant A/G snv 8.0E-06
CUI: C3888001
Disease: HERMANSKY-PUDLAK SYNDROME 3
HERMANSKY-PUDLAK SYNDROME 3 		0.700 0
dbSNP: rs386134128
rs386134128 		1.000 0.080 3 149206253 missense variant A/G;T snv
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs769313989
rs769313989 		1.000 0.080 3 149207387 missense variant A/T snv 4.0E-06
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: 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
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