Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs111871296
rs111871296
ATP7B ; ALG11
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: rs111871296
rs111871296
ATP7B ; ALG11
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: rs76151636
rs76151636
ATP7B
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 		0.900 1.000 39 1993 2019
dbSNP: rs28942074
rs28942074
ATP7B
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 		0.900 0.984 51 1995 2020
dbSNP: rs367956522
rs367956522
ATP7B
0.851 0.240 13 51949798 splice acceptor variant T/C snv 2.4E-05 7.7E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.700 1.000 7 1997 2014
dbSNP: rs367956522
rs367956522
ATP7B
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: rs367956522
rs367956522
ATP7B
0.851 0.240 13 51949798 splice acceptor variant T/C snv 2.4E-05 7.7E-05
CUI: C0023518
Disease: Leukocytosis
Leukocytosis 		0.700 0
dbSNP: rs367956522
rs367956522
ATP7B
0.851 0.240 13 51949798 splice acceptor variant T/C snv 2.4E-05 7.7E-05
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.700 0
dbSNP: rs367956522
rs367956522
ATP7B
0.851 0.240 13 51949798 splice acceptor variant T/C snv 2.4E-05 7.7E-05
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.700 0
dbSNP: rs367956522
rs367956522
ATP7B
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
ATP7B
0.851 0.240 13 51949798 splice acceptor variant T/C snv 2.4E-05 7.7E-05
CUI: C0085605
Disease: Liver Failure
Liver Failure 		0.700 0
dbSNP: rs121907990
rs121907990
ATP7B
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 		0.820 1.000 39 1993 2018
dbSNP: rs201497300
rs201497300
ATP7B
0.925 0.160 13 51946337 missense variant C/T snv 4.6E-05 2.8E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.820 1.000 35 1989 2016
dbSNP: rs1286080173
rs1286080173
ATP7B
0.925 0.160 13 51942551 missense variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.800 1.000 32 1995 2017
dbSNP: rs376910645
rs376910645
ATP7B
0.925 0.160 13 51944162 missense variant C/T snv 4.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.800 1.000 12 1995 2017
dbSNP: rs775541743
rs775541743
ATP7B
0.925 0.160 13 51942481 missense variant A/T snv 4.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.800 1.000 8 1996 2017
dbSNP: rs749085322
rs749085322
ATP7B
0.925 0.160 13 51941132 missense variant T/C snv 4.0E-05 2.1E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.800 1.000 3 2008 2017
dbSNP: rs201497300
rs201497300
ATP7B
0.925 0.160 13 51946337 missense variant C/T snv 4.6E-05 2.8E-05
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs137853284
rs137853284
ATP7B
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 		0.800 1.000 48 1995 2017
dbSNP: rs121907993
rs121907993
ATP7B
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 		0.800 1.000 46 1995 2017
dbSNP: rs28942076
rs28942076
ATP7B
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 		0.800 1.000 40 1995 2019
dbSNP: rs121907994
rs121907994
ATP7B
1.000 0.160 13 51950116 missense variant G/A snv 6.8E-05 1.4E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.810 1.000 37 1995 2017
dbSNP: rs137853285
rs137853285
ATP7B
1.000 0.160 13 51958538 missense variant C/T snv 1.6E-05 4.9E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.800 1.000 36 1995 2017
dbSNP: rs201038679
rs201038679
ATP7B
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 		0.820 1.000 35 1995 2017
dbSNP: rs541208827
rs541208827
ATP7B
1.000 0.160 13 51942482 missense variant C/T snv 1.2E-04 6.3E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.800 1.000 35 1995 2017