Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 139350 single nucleotide variant NM_019592.6(RNF20):c.247C>T (p.Gln83Ter) 367537997 MedGen:CN221809 9 104302602 104302602 C T 139350 single nucleotide variant NM_019592.6(RNF20):c.247C>T (p.Gln83Ter) 367537997 MedGen:CN221809 9 101540320 101540320 C T

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000155827.11 RNF20 607699