Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 45690 single nucleotide variant NM_001031834.1(RAB40AL):c.176A>G (p.Asp59Gly) 145606134 Gene:574047,MedGen:C1845285,OMIM:300519,Orphanet:ORPHA85321 X 102192422 102192422 A G 45690 single nucleotide variant NM_001031834.1(RAB40AL):c.176A>G (p.Asp59Gly) 145606134 Gene:574047,MedGen:C1845285,OMIM:300519,Orphanet:ORPHA85321 X 102937494 102937494 A G

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000102128.8 RAB40AL 300405