Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 20739 single nucleotide variant NM_005977.3(RNF6):c.305G>A (p.Arg102Lys) 121434522 MedGen:C4016881 13 26789714 26789714 C T 20739 single nucleotide variant NM_005977.3(RNF6):c.305G>A (p.Arg102Lys) 121434522 MedGen:C4016881 13 26215577 26215577 C T 20740 single nucleotide variant NM_005977.3(RNF6):c.724G>A (p.Ala242Thr) 121434523 MedGen:C4016881 13 26789295 26789295 C T 20740 single nucleotide variant NM_005977.3(RNF6):c.724G>A (p.Ala242Thr) 121434523 MedGen:C4016881 13 26215158 26215158 C T 20741 single nucleotide variant NM_005977.3(RNF6):c.731G>A (p.Gly244Asp) 121434524 MedGen:C4016881 13 26789288 26789288 C T 20741 single nucleotide variant NM_005977.3(RNF6):c.731G>A (p.Gly244Asp) 121434524 MedGen:C4016881 13 26215151 26215151 C T

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000127870.16 RNF6 604242