rs28942074, ATP7B

N. diseases: 4
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 51958333 missense variant C/A;T snv 1.4E-04; 3.2E-05 0.900 0.984 64 1995 2020
Liver Failure, Acute
CUI: C0162557
Disease: Liver Failure, Acute
21 0.851 0.240 13 51958333 missense variant C/A;T snv 1.4E-04; 3.2E-05 0.020 1.000 2 2019 2020
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
45 0.851 0.240 13 51958333 missense variant C/A;T snv 1.4E-04; 3.2E-05 0.010 1.000 1 2018 2018
Fulminant Wilson's disease
CUI: C0860016
Disease: Fulminant Wilson's disease
1 0.851 0.240 13 51958333 missense variant C/A;T snv 1.4E-04; 3.2E-05 0.010 1.000 1 2020 2020