Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 97519 single nucleotide variant NM_207354.2(ANKRD13D):c.251G>T (p.Gly84Val) 386352277 MedGen:CN221809 11 67057817 67057817 G T 97519 single nucleotide variant NM_207354.2(ANKRD13D):c.251G>T (p.Gly84Val) 386352277 MedGen:CN221809 11 67290346 67290346 G T

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000172932.14 ANKRD13D 615126