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: rs1064797073
rs1064797073 		1.000 0.080 3 149198401 missense variant C/A 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: 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: rs121909579
rs121909579 		1.000 0.080 3 149179587 stop gained C/T snv 4.0E-06
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1277509410
rs1277509410 		1.000 3 149167180 frameshift variant GAGA/- delins 2.1E-05
CUI: C3888001
Disease: HERMANSKY-PUDLAK SYNDROME 3
HERMANSKY-PUDLAK SYNDROME 3 		0.700 0
dbSNP: rs139633388
rs139633388 		1.000 0.080 3 149178609 missense variant C/G snv 1.5E-03 1.6E-03
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: rs1553762556
rs1553762556 		1.000 0.080 3 149206167 splice donor variant C/T snv
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: rs1559940237
rs1559940237 		1.000 0.080 3 149185271 stop gained C/T snv
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs200683433
rs200683433 		1.000 0.080 3 149212616 missense variant C/G snv 1.4E-04 2.8E-05
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs281865095
rs281865095 		0.925 0.200 3 149163950 splice donor variant G/A;C;T snv 4.0E-06; 4.0E-06; 1.2E-05
CUI: C3888001
Disease: HERMANSKY-PUDLAK SYNDROME 3
HERMANSKY-PUDLAK SYNDROME 3 		0.700 0
dbSNP: rs281865095
rs281865095 		0.925 0.200 3 149163950 splice donor variant G/A;C;T snv 4.0E-06; 4.0E-06; 1.2E-05
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: rs281865096
rs281865096 		1.000 0.200 3 149170483 3 prime UTR variant G/A snv 7.0E-05
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: 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
dbSNP: rs386134122
rs386134122 		1.000 0.080 3 149210281 missense variant G/C snv
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
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: rs386134126
rs386134126 		1.000 0.080 3 149207551 missense variant C/G snv
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386134127
rs386134127 		1.000 0.080 3 149206327 missense variant G/T snv
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 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: rs386134129
rs386134129 		1.000 0.080 3 149186723 missense variant C/T snv
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386134130
rs386134130 		1.000 0.080 3 149185393 missense variant G/T snv
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386134131
rs386134131 		1.000 0.080 3 149178618 missense variant C/T snv
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386134132
rs386134132 		1.000 0.080 3 149177905 missense variant T/C snv
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0