Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 178467 single nucleotide variant NM_032588.3(TRIM63):c.650A>G (p.Tyr217Cys) 730880235 MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:C0949658 1 26385062 26385062 T C 178467 single nucleotide variant NM_032588.3(TRIM63):c.650A>G (p.Tyr217Cys) 730880235 MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:C0949658 1 26058571 26058571 T C 178468 single nucleotide variant NM_032588.3(TRIM63):c.143C>T (p.Ala48Val) 140523053 MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:C0949658 1 26393843 26393843 G A 178468 single nucleotide variant NM_032588.3(TRIM63):c.143C>T (p.Ala48Val) 140523053 MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:C0949658 1 26067352 26067352 G A 224213 single nucleotide variant NM_032588.3(TRIM63):c.739C>T (p.Gln247Ter) 148395034 MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:C0949658 1 26058482 26058482 G A 224213 single nucleotide variant NM_032588.3(TRIM63):c.739C>T (p.Gln247Ter) 148395034 MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:C0949658 1 26384973 26384973 G A 224214 single nucleotide variant NM_032588.3(TRIM63):c.325T>A (p.Cys109Ser) 770729739 MedGen:CN169374 1 26066275 26066275 A T 224214 single nucleotide variant NM_032588.3(TRIM63):c.325T>A (p.Cys109Ser) 770729739 MedGen:CN169374 1 26392766 26392766 A T 224215 single nucleotide variant NM_032588.3(TRIM63):c.224G>A (p.Cys75Tyr) 200811483 MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:C0949658 1 26392867 26392867 C T 224215 single nucleotide variant NM_032588.3(TRIM63):c.224G>A (p.Cys75Tyr) 200811483 MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:C0949658 1 26066376 26066376 C T 359258 single nucleotide variant NM_032588.3(TRIM63):c.206C>T (p.Ser69Phe) 1057518483 MedGen:CN169374 1 26066394 26066394 G A 359258 single nucleotide variant NM_032588.3(TRIM63):c.206C>T (p.Ser69Phe) 1057518483 MedGen:CN169374 1 26392885 26392885 G 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 1 26384690 rs1317709 T G rs1317709 5.18E-04 Alzheimer's disease HPOID:0002511 DOID:10652 C intron GWASdb_trait 1 26384690 rs1317709 T G rs1317709 8.27E-04 Bipolar disorder HPOID:0007302 DOID:3312 C intron GWASdb_trait 1 26385150 rs2275949 G C rs2275949 2.39E-04 Alzheimer's disease HPOID:0002511 DOID:10652 C intron GWASdb_trait 1 26387423 rs2997447 G A rs2997447 2.91E-06 Waist-hip ratio HPOID:0001513 DOID:9970 C intron GWASdb_trait

Disease associated variation - GWAS Central Study Name Source Marker Accession Chromosome Marker Start Marker Stop Alleles Gene Section P-value -log(p-value) GWAS of prostate cancer rs2275950 1 26385003 26385003 exonic 0.447655 0.349056560371824 GWAS of prostate cancer rs7553840 1 26380805 26380805 intronic 0.434951 0.36155966632871 GWAS of prostate cancer rs1317709 1 26384690 26384690 intronic 0.364311 0.438527715480076

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000158022.6 TRIM63 606131