rs201497300, 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 0.160 13 51946337 missense variant C/T snv 4.6E-05 2.8E-05 0.820 1.000 35 1989 2016
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.925 0.160 13 51946337 missense variant C/T snv 4.6E-05 2.8E-05 0.700 0