Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 171661 single nucleotide variant NM_007002.3(ADRM1):c.653C>A (p.Pro218Gln) 193921052 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 20 62307625 62307625 C A 171661 single nucleotide variant NM_007002.3(ADRM1):c.653C>A (p.Pro218Gln) 193921052 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 20 60882681 60882681 C A

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000130706.12 ADRM1 610650