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: 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: 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: 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: 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: 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: 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
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
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