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: rs750451693
rs750451693 		3 149210191 missense variant C/T snv 1.6E-05 2.1E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 4 2003 2015
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: 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: 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: 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: 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: rs776936158
rs776936158 		1.000 0.080 3 149186649 missense variant C/T snv 1.6E-05 2.1E-05
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 4 2002 2017
dbSNP: rs13072552
rs13072552 		1.000 0.080 3 149195339 intron variant G/T snv 0.18
CUI: C0474679
Disease: Serum ceruloplasmin measurement
Serum ceruloplasmin measurement 		0.800 1.000 1 2012 2012
dbSNP: rs13072552
rs13072552 		1.000 0.080 3 149195339 intron variant G/T snv 0.18
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs149864882
rs149864882 		1.000 0.160 3 149221753 missense variant T/C;G snv 2.8E-05; 4.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1553759167
rs1553759167 		1.000 0.080 3 149185283 splice acceptor variant TGGGGAATAATCCCATTCCACCTCCACTGCTGCGATATAGTATGTCCTCTCTCCCAGGTAGAAGGTGGAATCCTCAGACTGCCGCCTGCATTGGTTCACAGTATATTTTTGCTTCATGCCGCCTGTGTAATGATCAGTTGTAAGGCATTCAACATTAAAAGTCCCTGGAGTGGTAAATAAGAAAACATGTCACTTCTTTGCTAGTGCCCTCTGGGGCTCTCCACCTTCCTCAGAATTA/- del
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1553759338
rs1553759338 		1.000 0.080 3 149186168 splice acceptor variant GAAAAGTTTAGGTGCAGAATATTTATGGGAGTCATTCCCCTTCTAGTCTGATTTTCCAGCTATCTTTAAAAGGACCATAATCTAAAAAGGGATCATCTTGAGGAGCCTATGGAAGTGGAGAAAACCACACCATGTTCTTTTACTCCACATTGTCCTCAGTAACTAGGAAACAGACCTATCTGGTACATACTTCAGCTGATAGTGGCCTAGACTTGCTCTTTCAAAGATAGGAAGGGCACTTCAGAGGCTTGGGGAAGGGATAAGTTTATCACCCAACACATTCTGCTACAGGATTTTAAACCAAAACTACACAAATCCATCCAATAGAGACTTGGCTTTAAGTAAATATACCCTCTGTGTCAGGCCACATGTGGAGCGTAAGACTTGTTTGAGGGAAGAGGTTTGCTGTGTCTCTCCGTTCTCCTCTCCACAGATATGTGTTTCCTGAAAAGTATATTCCATGTACATCGGCCTCATTTCCGGCGCTGAATAAGTACCACACGACCGAATCTCCTTTGCACATAGTGAGACCCGGCTGATTCCCATACATGAATCCATTCATGGCTGTAAAAGTTGGGAAATAACATTTTGGAAGTGGTTTAGATTCTACTACATGACAACCTCACAGACTTTCCAGGACCAACTTTGTTTTTTTAATTTTTAAAAGACCTATTCAGGCTTGCCCACGCTTTATGTGTCAGGAGTATCCTTGCAACTCCTTGTGGTTCCTGGCATTTCAGAGCAGCCGCTGGCTGAAAGGAGCAGAGCTGAATGCATAGTTCTTGTTCTATGCTAGTGTCCCTAGCAACCTGGGAATCCCACTGCTCTTCCTGGCTAAAACAATGATTCTGTTATT/- delins
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs16861634
rs16861634 		1.000 0.040 3 149213737 intron variant G/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17838831
rs17838831 		1.000 0.040 3 149222074 upstream gene variant T/C snv 0.18 0.16
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017