rs1213481140, ATP7B

N. diseases: 1
Source: UNIPROT ×
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
179 1.000 0.160 13 51941201 missense variant C/T snv 8.0E-06 0.800 1.000 23 1995 2017