Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 204624 single nucleotide variant NM_198993.3(STAC2):c.257G>A (p.Arg86Lys) 863223351 MedGen:C0036346 17 37374260 37374260 C T 204624 single nucleotide variant NM_198993.3(STAC2):c.257G>A (p.Arg86Lys) 863223351 MedGen:C0036346 17 39218007 39218007 C T