Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 75616 single nucleotide variant NM_024339.4(THOC6):c.136G>A (p.Gly46Arg) 587777030 Gene:100529147,MedGen:C3150939,OMIM:613680,Orphanet:ORPHA363444 16 3075805 3075805 G A 75616 single nucleotide variant NM_024339.4(THOC6):c.136G>A (p.Gly46Arg) 587777030 Gene:100529147,MedGen:C3150939,OMIM:613680,Orphanet:ORPHA363444 16 3025804 3025804 G A

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000131652.13 THOC6 615403