rs121907990, ATP7B

N. diseases: 2
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 0.925 0.240 13 51937570 missense variant T/A;C snv 4.0E-06; 2.2E-04 0.820 1.000 40 1993 2018
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
45 0.925 0.240 13 51937570 missense variant T/A;C snv 4.0E-06; 2.2E-04 0.010 1.000 1 2018 2018