Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 171429 single nucleotide variant NM_006833.4(COPS6):c.631A>C (p.Ser211Arg) 193921011 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 7 100091134 100091134 A C 171429 single nucleotide variant NM_006833.4(COPS6):c.631A>C (p.Ser211Arg) 193921011 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 7 99688757 99688757 A C

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000168090.9 COPS6 614729