ATP7B, ATPase copper transporting beta, 540

N. diseases: 182; N. variants: 333
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: rs111871296
rs111871296 		13 52012616 intron variant G/A snv 4.2E-02
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs111871296
rs111871296 		13 52012616 intron variant G/A snv 4.2E-02
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs1057518867
rs1057518867 		1.000 0.040 13 51946381 missense variant C/T snv
CUI: C0239842
Disease: Tremor of hands
Tremor of hands 		0.700 0
dbSNP: rs367956522
rs367956522 		0.851 0.240 13 51949798 splice acceptor variant T/C snv 2.4E-05 7.7E-05
CUI: C0240997
Disease: Decreased serum ceruloplasmin
Decreased serum ceruloplasmin 		0.700 0
dbSNP: rs367956522
rs367956522 		0.851 0.240 13 51949798 splice acceptor variant T/C snv 2.4E-05 7.7E-05
CUI: C1848459
Disease: High nonceruloplasmin-bound serum copper
High nonceruloplasmin-bound serum copper 		0.700 0
dbSNP: rs28942074
rs28942074 		0.851 0.240 13 51958333 missense variant C/A;T snv 1.4E-04; 3.2E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases 0.900 0.984 64 1995 2020
dbSNP: rs76151636
rs76151636 		0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases 0.900 1.000 56 1993 2019
dbSNP: rs137853284
rs137853284 		1.000 0.160 13 51958334 missense variant G/A;C snv 5.2E-05; 8.0E-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 0.800 1.000 48 1995 2017
dbSNP: rs121907993
rs121907993 		1.000 0.160 13 51949772 missense variant G/A;C;T snv 6.0E-05; 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 0.800 1.000 46 1995 2017
dbSNP: rs121907990
rs121907990 		0.925 0.240 13 51937570 missense variant T/A;C snv 4.0E-06; 2.2E-04
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases 0.820 1.000 40 1993 2018
dbSNP: rs28942076
rs28942076 		1.000 0.160 13 51949700 missense variant C/A;T snv 8.0E-06 7.0E-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 0.800 1.000 40 1995 2019
dbSNP: rs121907994
rs121907994 		1.000 0.160 13 51950116 missense variant G/A snv 6.8E-05 1.4E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 37 1995 2017
dbSNP: rs201038679
rs201038679 		1.000 0.160 13 51946369 missense variant G/A;T snv 3.6E-05 1.4E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases 0.820 1.000 37 1995 2017
dbSNP: rs137853285
rs137853285 		1.000 0.160 13 51958538 missense variant C/T snv 1.6E-05 4.9E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 36 1995 2017
dbSNP: rs201497300
rs201497300 		0.925 0.160 13 51946337 missense variant C/T snv 4.6E-05 2.8E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases 0.820 1.000 35 1989 2016
dbSNP: rs541208827
rs541208827 		1.000 0.160 13 51942482 missense variant C/T snv 1.2E-04 6.3E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 35 1995 2017
dbSNP: rs753594031
rs753594031 		1.000 0.160 13 51944248 missense variant C/A;T snv 4.0E-06; 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 0.800 1.000 35 1995 2017
dbSNP: rs756029120
rs756029120 		1.000 0.160 13 51941120 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 35 1995 2017
dbSNP: rs560952220
rs560952220 		1.000 0.160 13 51942493 missense variant A/G snv 2.0E-05 7.0E-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 0.810 1.000 34 1995 2017
dbSNP: rs72552255
rs72552255 		1.000 0.160 13 51946414 missense variant G/A snv 8.4E-05 1.2E-04
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 34 1995 2017
dbSNP: rs746485916
rs746485916 		1.000 0.160 13 51944231 missense variant G/A;C snv 3.2E-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 0.810 1.000 34 1995 2017
dbSNP: rs776280797
rs776280797 		1.000 0.160 13 51939104 missense variant C/T snv 8.4E-05 5.6E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 34 1995 2017
dbSNP: rs786204547
rs786204547 		1.000 0.160 13 51941081 missense variant C/G;T snv 8.0E-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 0.800 1.000 34 1995 2017
dbSNP: rs121907998
rs121907998 		1.000 0.160 13 51961849 missense variant A/C snv 5.2E-04 4.0E-04
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 33 1995 2017
dbSNP: rs587783309
rs587783309 		1.000 0.160 13 51944164 missense variant G/A snv 7.0E-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 0.800 1.000 33 1995 2017