Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 97405 single nucleotide variant NM_001082968.1(TOM1L2):c.144G>T (p.Lys48Asn) 386352375 MedGen:CN221809 17 17801982 17801982 C A 97405 single nucleotide variant NM_001082968.1(TOM1L2):c.144G>T (p.Lys48Asn) 386352375 MedGen:CN221809 17 17898668 17898668 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 17 17747289 rs3183702 A G rs3183702 5.48E-06 Parkinson's disease HPOID:0001300 DOID:14330 C UTR-3 GWASdb_trait 17 17750907 rs7501812 G A rs7501812 1.72E-05 Parkinson's disease HPOID:0001300 DOID:14330 G UTR-3 GWASdb_trait 17 17752809 rs12951376 T C rs12951376 7.75E-05 Parkinson's disease HPOID:0001300 DOID:14330 C intron GWASdb_trait 17 17782404 rs8065563 G A rs8065563 9.68E-05 Parkinson's disease HPOID:0001300 DOID:14330 G intron GWASdb_trait 17 17794444 rs4925125 T C rs4925125 4.12E-05 Parkinson's disease HPOID:0001300 DOID:14330 C intron GWASdb_trait 17 17818817 rs7222480 G T rs7222480 2.64E-05 Parkinson's disease HPOID:0001300 DOID:14330 T intron GWASdb_trait 17 17834691 rs6502622 A G rs6502622 2.39E-05 Parkinson's disease HPOID:0001300 DOID:14330 G intron GWASdb_trait 17 17869642 rs6502629 A G rs6502629 5.11E-05 Parkinson's disease HPOID:0001300 DOID:14330 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000175662.17 TOM1L2 615519