Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 171342 single nucleotide variant NM_004238.2(TRIP12):c.724C>A (p.Pro242Thr) 193921087 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 2 229858949 229858949 G T 171342 single nucleotide variant NM_004238.2(TRIP12):c.724C>A (p.Pro242Thr) 193921087 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 2 230723665 230723665 G T

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 2 230759699 rs13014061 C A rs13014061 1.70E-16 ESTROGENS PROGESTINS Breast cancer (Postmenopausal women) HPOID:0003002 DOID:1612 C intron GWASdb_drug 2 230666898 rs10432554 A G rs10432554 9.27E-04 Parkinson's disease HPOID:0001300 DOID:14330 A intron GWASdb_trait 2 230709198 rs1035833 A G rs1035833 2.30E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 2 230759699 rs13014061 C A rs13014061 1.70E-16 Breast cancer (Postmenopausal women) HPOID:0003002 DOID:1612 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 rs488644 2 230736681 230736681 intronic 0.963651 0.0160802235839656 GWAS of prostate cancer rs13014061 2 230759699 230759699 intronic 0.83851 0.0764917536674099 GWAS of prostate cancer rs1035833 2 230709198 230709198 intronic 0.797637 0.0981947086042109 GWAS of prostate cancer rs9288651 2 230731397 230731397 intronic 0.732919 0.134944019624681

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000153827.13 TRIP12 604506