rs367956522, ATP7B

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
349 0.851 0.240 13 51949798 splice acceptor variant T/C snv 2.4E-05 7.7E-05 0.700 1.000 7 1997 2014
Anemia, Hemolytic
CUI: C0002878
Disease: Anemia, Hemolytic
31 0.851 0.240 13 51949798 splice acceptor variant T/C snv 2.4E-05 7.7E-05 0.700 0
Decreased serum ceruloplasmin
CUI: C0240997
Disease: Decreased serum ceruloplasmin
5 0.851 0.240 13 51949798 splice acceptor variant T/C snv 2.4E-05 7.7E-05 0.700 0
High nonceruloplasmin-bound serum copper
2 0.851 0.240 13 51949798 splice acceptor variant T/C snv 2.4E-05 7.7E-05 0.700 0
Leukocytosis
CUI: C0023518
Disease: Leukocytosis
4 0.851 0.240 13 51949798 splice acceptor variant T/C snv 2.4E-05 7.7E-05 0.700 0
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
189 0.851 0.240 13 51949798 splice acceptor variant T/C snv 2.4E-05 7.7E-05 0.700 0
Liver Failure
CUI: C0085605
Disease: Liver Failure
20 0.851 0.240 13 51949798 splice acceptor variant T/C snv 2.4E-05 7.7E-05 0.700 0