Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 171465 single nucleotide variant NM_138778.4(DPH7):c.932A>G (p.Asn311Ser) 193920785 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 9 137564451 137564451 T C 171465 single nucleotide variant NM_138778.4(DPH7):c.932A>G (p.Asn311Ser) 193920785 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 9 140458903 140458903 T C

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000148399.12 DPH7 613210