Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 223717 single nucleotide variant NM_001143986.1(TLE6):c.1529C>A (p.Ser510Tyr) 767222404 MedGen:CN235583,OMIM:616814 19 2993574 2993574 C A 223717 single nucleotide variant NM_001143986.1(TLE6):c.1529C>A (p.Ser510Tyr) 767222404 MedGen:CN235583,OMIM:616814 19 2993572 2993572 C A

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 19 2989697 rs6510730 T C rs6510730 2.65E-04 Smoking initiation HPOID:0000707 DOID:0050742 T,C cds-synon GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000104953.19 TLE6 612399