Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 94194 single nucleotide variant NM_001130067.1(TRIM2):c.680A>T (p.Glu227Val) 587777063 MedGen:C3809655,OMIM:615490,Orphanet:ORPHA397968 4 154215612 154215612 A T 94194 single nucleotide variant NM_001130067.1(TRIM2):c.680A>T (p.Glu227Val) 587777063 MedGen:C3809655,OMIM:615490,Orphanet:ORPHA397968 4 153294460 153294460 A T 94195 deletion NM_001130067.1(TRIM2):c.1700delA (p.Lys567Argfs) 587777838 MedGen:C3809655,OMIM:615490,Orphanet:ORPHA397968 4 153315998 153315998 A - 94195 deletion NM_001130067.1(TRIM2):c.1700delA (p.Lys567Argfs) 587777838 MedGen:C3809655,OMIM:615490,Orphanet:ORPHA397968 4 154237150 154237150 A - 244155 single nucleotide variant NM_015271.4(TRIM2):c.2000A>C (p.Asp667Ala) 879253863 MedGen:C3809655,OMIM:615490,Orphanet:ORPHA397968 4 154245278 154245278 A C 244155 single nucleotide variant NM_015271.4(TRIM2):c.2000A>C (p.Asp667Ala) 879253863 MedGen:C3809655,OMIM:615490,Orphanet:ORPHA397968 4 153324126 153324126 A C

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 4 154206361 rs10021898 C T rs10021898 4.24E-05 TOPIRAMATE|FRUCTOSE ANTICONVULSANTS Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 T intron GWASdb_drug 4 154080813 rs6817112 C T rs6817112 5.50E-05 Longevity, exceptional NA NA C intron GWASdb_trait 4 154104459 rs4543093 A G rs4543093 9.31E-05 Major depressive disorder (broad) HPOID:0000716 DOID:1470 G intron GWASdb_trait 4 154113457 rs12511084 C A rs12511084 9.50E-05 Major depressive disorder (broad) HPOID:0000716 DOID:1470 A intron GWASdb_trait 4 154118168 rs6817587 G A rs6817587 4.84E-04 Amyotrophic lateral sclerosis HPOID:0007354 DOID:332 G intron GWASdb_trait 4 154154000 rs12644284 A G rs12644284 4.00E-06 Multiple sclerosis HPOID:0000096|HPOID:0001967|HPOID:0009741|HPOID:0008664|HPOID:0001150|HPOID:0005450|HPOID:0005652|HPOID:0005686|HPOID:0005789|HPOID:0100923|HPOID:0100925|HPOID:0006623|HPOID:0100861|HPOID:0002694|HPOID:0004979|HPOID:0003881|HPOID:0003991|HPOID:0003854|HPOID:0003933|HPOID:0004030|HPOID:0100899|HPOID:0002634 DOID:2377 A intron GWASdb_trait 4 154206361 rs10021898 C T rs10021898 4.24E-05 Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 T intron GWASdb_trait 4 154216710 rs893805 G A rs893805 4.13E-05 Parkinson's disease (motor and cognition) HPOID:0001300 DOID:14330 G cds-synon GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000109654.14 TRIM2 614141