Wilson's disease

At a minimum, these SNPs are known to be related, and others may also be

Wilson's disease or hepatolenticular degeneration is an autosomal recessive disease in which copper accumulates in tissues, leading to neurological or psychiatric symptoms and liver disease. It is treated with medication that reduces copper absorption or removes the excess copper from the body, but occasionally a liver transplant is required.Wikipedia

The condition is due to mutations in the Wilson disease protein (ATP7B) gene. A single abnormal copy of the gene is present in 1 in 100 people, who do not develop any symptoms (they are carriers). If a child inherits abnormal ATP7B alleles from both parents, the child may develop Wilson's disease. Symptoms usually appear between the ages of 6 and 20 years, but cases in much older people have been described. Wilson's disease occurs in 1 to 4 people per 100,000. Wikipedia

A ClinGen Actionability summary (see Actionability (ClinGen)) providing recommendations for individuals with ATP7B mutations is available here.

Mutations listed in SNPedia for the ATP7B gene include:

• 7-BP DEL, NT2010 rs779904655
• 1-BP DEL, 2337C -
• 1-BP INS, NT2487 -
• HIS1069GLN rs76151636
• GLY1267ARG rs121907992
• IVS4, G-C, -1 -
• ARG778LEU rs28942074
• 15-BP DEL, NT-441 -
• 3-BP DEL, 3892GTC -
• ASP765ASN rs28942075
• GLY943SER rs28942076
• ARG919GLY rs121907993
• 1-BP DEL, 2511delA rs777362050
• ALA874VAL rs121907994
• ASN1270SER rs121907990
• ARG969GLN rs121907996
• THR766ARG rs121907997
• MET645ARG rs121907998
• ILE1148THR AND GLY1176ARG -
• GLN289TER rs121907999
• LEU708PRO rs121908000
• GLY691ARG rs121908001
• ILE1148THR rs60431989