Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 171374 single nucleotide variant NM_178556.4(TRIML1):c.1188A>T (p.Lys396Asn) 193920871 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 4 188147153 188147153 A T 171374 single nucleotide variant NM_178556.4(TRIML1):c.1188A>T (p.Lys396Asn) 193920871 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 4 189068307 189068307 A T