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: 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: rs386134156
rs386134156 		1.000 0.080 3 149178592 stop gained G/A snv 2.4E-05 1.4E-05
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous 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: rs587777922
rs587777922 		1.000 0.080 3 149185339 frameshift variant G/- delins
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: 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: 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
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: rs1879169
rs1879169 		1.000 0.040 3 149220559 intron variant T/C snv 9.7E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
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: rs386134124
rs386134124 		1.000 0.080 3 149210187 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 1 2002 2002
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: rs386134133
rs386134133 		1.000 0.080 3 149177896 missense variant C/T snv
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs386134147
rs386134147 		1.000 0.080 3 149186531 frameshift variant G/- delins
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs386134155
rs386134155 		1.000 0.080 3 149209349 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs701748
rs701748 		1.000 0.040 3 149223488 upstream gene variant G/A snv 0.32
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
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