Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 267666 single nucleotide variant NM_005647.3(TBL1X):c.88C>T (p.Arg30Cys) 770995288 MedGen:CN169374 X 9621714 9621714 C T 267666 single nucleotide variant NM_005647.3(TBL1X):c.88C>T (p.Arg30Cys) 770995288 MedGen:CN169374 X 9653674 9653674 C 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 X 9456801 rs2521389 G A rs2521389 5.04E-04 Amyotrophic Lateral Sclerosis HPOID:0007354 DOID:332 T intron GWASdb_trait X 9480453 rs2521370 A G rs2521370 2.20E-05 Urinary metabolites HPOID:0000079 DOID:557 T intron GWASdb_trait X 9557779 rs5934655 C T rs5934655 2.40E-05 Urinary metabolites HPOID:0000079 DOID:557 C intron GWASdb_trait X 9571393 rs3752627 A G rs3752627 1.92E-05 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait X 9678573 rs17280788 C T rs17280788 1.83E-04 Amyotrophic Lateral Sclerosis HPOID:0007354 DOID:332 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 rs2681642 X 9484447 9484447 intronic 0.961139 0.0172138000862531 GWAS of prostate cancer rs2521394 X 9451334 9451334 intronic 0.955334 0.0198447655918117 GWAS of prostate cancer rs2521389 X 9456801 9456801 intronic 0.924992 0.0338620233375939 GWAS of prostate cancer rs4830643 X 9432059 9432059 intronic 0.887888 0.051641813556624706 GWAS of prostate cancer rs4830644 X 9434808 9434808 intronic 0.858039 0.066492971941664 GWAS of prostate cancer rs2681645 X 9491298 9491298 intronic 0.853776 0.0686560575597866 GWAS of prostate cancer rs2238860 X 9546184 9546184 intronic 0.851096 0.0700214505866 GWAS of prostate cancer rs845447 X 9439552 9439552 intronic 0.829772 0.08104122418366659 GWAS of prostate cancer rs2521373 X 9476990 9476990 intronic 0.827063 0.0824614076055384 GWAS of prostate cancer rs2254392 X 9470721 9470721 intronic 0.796071 0.09904819666795661 GWAS of prostate cancer rs2015165 X 9548193 9548193 intronic 0.723421 0.140608888369886 GWAS of prostate cancer rs845440 X 9442326 9442326 intronic 0.672933 0.17202817378313298 GWAS of prostate cancer rs2238854 X 9517886 9517886 intronic 0.58816 0.230504514630002 GWAS of prostate cancer rs2521579 X 9683354 9683354 intronic 0.577224 0.23865561997134302 GWAS of prostate cancer rs1557729 X 9613736 9613736 intronic 0.510269 0.292200815241918 GWAS of prostate cancer rs5933747 X 9584470 9584470 intronic 0.48781 0.311749300987635 GWAS of prostate cancer rs2405800 X 9575534 9575534 intronic 0.475081 0.323232338050922 GWAS of prostate cancer rs2681647 X 9538424 9538424 intronic 0.412408 0.384672918747016 GWAS of prostate cancer rs5934650 X 9543470 9543470 intronic 0.410319 0.386878372372336 GWAS of prostate cancer rs768568 X 9606080 9606080 intronic 0.368926 0.433060736861482 GWAS of prostate cancer rs2239404 X 9578169 9578169 intronic 0.319221 0.495908546255747 GWAS of prostate cancer rs2239413 X 9668839 9668839 intronic 0.228365 0.641370456781849 GWAS of prostate cancer rs733071 X 9675325 9675325 intronic 0.221556 0.65451648426199 GWAS of prostate cancer rs2521582 X 9668985 9668985 intronic 0.203881 0.6906232449410059 GWAS of prostate cancer rs2066887 X 9503310 9503310 intronic 0.200111 0.698729037760603 GWAS of prostate cancer rs2681646 X 9538206 9538206 intronic 0.1735 0.7607005208731069 GWAS of prostate cancer rs2188766 X 9614739 9614739 intronic 0.15887 0.79895810445732 GWAS of prostate cancer rs2681655 X 9525425 9525425 intronic 0.149925 0.824125942490183 GWAS of prostate cancer rs2283691 X 9589231 9589231 intronic 0.128617 0.890701624582519 GWAS of prostate cancer rs2521414 X 9516027 9516027 intronic 0.123654 0.907791830375632 GWAS of prostate cancer rs2097706 X 9604032 9604032 intronic 0.110322 0.9573378735445839 GWAS of prostate cancer rs2521580 X 9669111 9669111 intronic 0.107402 0.968987631291244 GWAS of prostate cancer rs2732882 X 9648220 9648220 intronic 0.090544 1.04314032340875 GWAS of prostate cancer rs2238867 X 9572536 9572536 intronic 0.090205 1.04476938915177 GWAS of prostate cancer rs2238857 X 9519898 9519898 intronic 0.07301 1.13661765155921 GWAS of prostate cancer rs2239408 X 9588255 9588255 intronic 0.029691 1.5273751750153302 GWAS of prostate cancer rs2732878 X 9643469 9643469 intronic 0.027249 1.56464943109196 GWAS of prostate cancer rs2238869 X 9594546 9594546 intronic 0.02523 1.59808274948243 GWAS of prostate cancer rs2283693 X 9665063 9665063 intronic 0.015841 1.80021740603101 GWAS of prostate cancer rs5933743 X 9558115 9558115 intronic 0.015263 1.81636009577865 GWAS of prostate cancer rs2238865 X 9563963 9563963 intronic 0.004979 2.3028578737245398 GWAS of prostate cancer rs877633 X 9597785 9597785 intronic 0.000982 3.0078885122130496

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000101849.15 TBL1X 300196