Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 360260 single nucleotide variant NM_182641.3(BPTF):c.8262-2A>G 1057518354 MedGen:CN169374 17 67964210 67964210 A G 360260 single nucleotide variant NM_182641.3(BPTF):c.8262-2A>G 1057518354 MedGen:CN169374 17 65960326 65960326 A G

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 65833002 rs1976053 C G rs1976053 9.21E-06 Esophageal cancer (squamous cell) HPOID:0011459 DOID:5041 G intron GWASdb_trait 17 65835617 rs11079707 G A rs11079707 4.04E-04 Amyotrophic lateral sclerosis (sporadic) HPOID:0007354 DOID:332 G intron GWASdb_trait 17 65857177 rs2128792 C T rs2128792 2.97E-04 Amyotrophic lateral sclerosis (sporadic) HPOID:0007354 DOID:332 C intron GWASdb_trait 17 65872403 rs9899296 T G rs9899296 9.20E-08 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 17 65892343 rs60856912 G T rs60856912 1.07E-05 Lung adenocarcinoma HPOID:0100526 DOID:3910 T intron GWASdb_trait 17 65892507 rs61676547 G C rs61676547 1.05E-05 Lung adenocarcinoma HPOID:0100526 DOID:3910 G intron GWASdb_trait 17 65892752 rs56148300 T C rs56148300 9.98E-06 Lung adenocarcinoma HPOID:0100526 DOID:3910 T intron GWASdb_trait 17 65893019 rs56404791 T G rs56404791 9.98E-06 Lung adenocarcinoma HPOID:0100526 DOID:3910 G intron GWASdb_trait 17 65894542 rs6504550 A G rs6504550 7.40E-04 Iris characteristics HPOID:0000525 DOID:240 G intron GWASdb_trait 17 65898809 rs7216064 G A rs7216064 7.00E-11 Lung adenocarcinoma HPOID:0100526 DOID:3910 G intron GWASdb_trait 17 65898809 rs7216064 G A rs7216064 7.00E-06 Lung cancer HPOID:0100526 DOID:1324 G intron GWASdb_trait 17 65902645 rs8065906 G A rs8065906 9.92E-06 Lung adenocarcinoma HPOID:0100526 DOID:3910 G intron GWASdb_trait 17 65909442 rs12602655 A G rs12602655 9.57E-06 Lung adenocarcinoma HPOID:0100526 DOID:3910 A intron GWASdb_trait 17 65912960 rs8072225 A G rs8072225 8.63E-06 Lung adenocarcinoma HPOID:0100526 DOID:3910 G intron GWASdb_trait 17 65913358 rs55896768 T C rs55896768 8.63E-06 Lung adenocarcinoma HPOID:0100526 DOID:3910 C intron GWASdb_trait 17 65918807 rs12600941 A G rs12600941 9.06E-06 Lung adenocarcinoma HPOID:0100526 DOID:3910 A intron GWASdb_trait 17 65920508 rs62085991 G A rs62085991 9.44E-06 Lung adenocarcinoma HPOID:0100526 DOID:3910 G intron GWASdb_trait 17 65921834 rs4790981 A G rs4790981 1.03E-05 Lung adenocarcinoma HPOID:0100526 DOID:3910 T intron GWASdb_trait 17 65923083 rs62085992 T A rs62085992 9.82E-06 Lung adenocarcinoma HPOID:0100526 DOID:3910 T intron GWASdb_trait 17 65923152 rs62085993 T C rs62085993 1.07E-05 Lung adenocarcinoma HPOID:0100526 DOID:3910 T intron GWASdb_trait 17 65926604 rs73338706 T C rs73338706 1.07E-05 Lung adenocarcinoma HPOID:0100526 DOID:3910 T,C intron GWASdb_trait 17 65930133 rs4271626 G A rs4271626 1.07E-05 Lung adenocarcinoma HPOID:0100526 DOID:3910 C intron GWASdb_trait 17 65930772 rs4791300 A G rs4791300 1.03E-05 Lung adenocarcinoma HPOID:0100526 DOID:3910 C intron GWASdb_trait 17 65930937 rs4791299 A G rs4791299 1.03E-05 Lung adenocarcinoma HPOID:0100526 DOID:3910 C intron GWASdb_trait 17 65933918 rs56393562 C T rs56393562 1.07E-05 Lung adenocarcinoma HPOID:0100526 DOID:3910 C intron GWASdb_trait 17 65938655 rs8071463 G A rs8071463 9.07E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 17 65938655 rs8071463 G A rs8071463 8.93E-05 Alcohol dependence HPOID:0000707 DOID:0050741 G intron GWASdb_trait 17 65938655 rs8071463 G A rs8071463 1.07E-05 Lung adenocarcinoma HPOID:0100526 DOID:3910 G intron GWASdb_trait 17 65939075 rs12451721 G A rs12451721 9.82E-06 Lung adenocarcinoma HPOID:0100526 DOID:3910 G intron GWASdb_trait 17 65944515 rs11870068 A C rs11870068 7.67E-06 Alcohol dependence HPOID:0000707 DOID:0050741 A intron GWASdb_trait 17 65944515 rs11870068 A C rs11870068 8.09E-05 Alcohol dependence HPOID:0000707 DOID:0050741 A intron GWASdb_trait 17 65944515 rs11870068 A C rs11870068 3.60E-04 Alcohol dependence HPOID:0000707 DOID:0050741 A intron GWASdb_trait 17 65945536 rs7223357 C G rs7223357 1.07E-05 Lung adenocarcinoma HPOID:0100526 DOID:3910 C intron GWASdb_trait 17 65947970 rs11867401 G A rs11867401 1.03E-05 Lung adenocarcinoma HPOID:0100526 DOID:3910 G intron GWASdb_trait 17 65949993 rs9907491 G A rs9907491 1.03E-05 Lung adenocarcinoma HPOID:0100526 DOID:3910 G intron GWASdb_trait 17 65951107 rs4790974 A T rs4790974 1.03E-05 Lung adenocarcinoma HPOID:0100526 DOID:3910 T intron GWASdb_trait 17 65957568 rs9899520 A G rs9899520 1.07E-05 Lung adenocarcinoma HPOID:0100526 DOID:3910 A intron GWASdb_trait 17 65960854 rs59956089 T C rs59956089 5.51E-06 Lung adenocarcinoma HPOID:0100526 DOID:3910 T intron GWASdb_trait 17 65962238 rs10445361 T G rs10445361 1.07E-05 Lung adenocarcinoma HPOID:0100526 DOID:3910 T intron GWASdb_trait 17 65968003 rs62086043 A G rs62086043 1.07E-05 Lung adenocarcinoma HPOID:0100526 DOID:3910 A intron GWASdb_trait 17 65970837 rs62086044 G T rs62086044 1.07E-05 Lung adenocarcinoma HPOID:0100526 DOID:3910 G intron GWASdb_trait 17 65971611 rs6416958 T C rs6416958 5.73E-05 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 17 65973731 rs62086045 G A rs62086045 1.07E-05 Lung adenocarcinoma HPOID:0100526 DOID:3910 G intron GWASdb_trait 17 65977053 rs7210027 C T rs7210027 1.07E-05 Lung adenocarcinoma HPOID:0100526 DOID:3910 C intron GWASdb_trait 17 65977132 rs4790941 G A rs4790941 1.07E-05 Lung adenocarcinoma HPOID:0100526 DOID:3910 C intron GWASdb_trait 17 65980289 rs11656743 G A rs11656743 1.07E-05 Lung adenocarcinoma HPOID:0100526 DOID:3910 G UTR-3 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000171634.16 BPTF 601819