Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 171545 single nucleotide variant NM_001199823.2(NEDD8-MDP1):c.451C>G (p.Leu151Val) 193921062 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 14 24214313 24214313 G C 171545 single nucleotide variant NM_001199823.2(NEDD8-MDP1):c.451C>G (p.Leu151Val) 193921062 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 14 24683519 24683519 G C