Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 94423 single nucleotide variant NM_001256864.1(DNAJC6):c.801-2A>G 398122404 MedGen:C3809811,OMIM:615528 1 65385710 65385710 A G 94423 single nucleotide variant NM_001256864.1(DNAJC6):c.801-2A>G 398122404 MedGen:C3809811,OMIM:615528 1 65851393 65851393 A G 94424 single nucleotide variant NM_001256865.1(DNAJC6):c.2200C>T (p.Gln734Ter) 398122405 MedGen:C3809811,OMIM:615528 1 65871735 65871735 C T 94424 single nucleotide variant NM_001256865.1(DNAJC6):c.2200C>T (p.Gln734Ter) 398122405 MedGen:C3809811,OMIM:615528 1 65406052 65406052 C T 220990 single nucleotide variant NM_001256865.1(DNAJC6):c.244C>T (p.Arg82Ter) 864622011 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 1 65366107 65366107 C T 220990 single nucleotide variant NM_001256865.1(DNAJC6):c.244C>T (p.Arg82Ter) 864622011 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 1 65831790 65831790 C T 247505 single nucleotide variant NM_001256865.1(DNAJC6):c.2569A>G (p.Arg857Gly) 879255630 MedGen:CN237819 1 65411394 65411394 A G 247505 single nucleotide variant NM_001256865.1(DNAJC6):c.2569A>G (p.Arg857Gly) 879255630 MedGen:CN237819 1 65877077 65877077 A G 247506 single nucleotide variant NM_001256865.1(DNAJC6):c.2013A>T (p.Thr671=) 879255554 MedGen:CN237819 1 65867559 65867559 A T 247506 single nucleotide variant NM_001256865.1(DNAJC6):c.2013A>T (p.Thr671=) 879255554 MedGen:CN237819 1 65401876 65401876 A T 260693 single nucleotide variant NM_001256865.1(DNAJC6):c.2326C>T (p.Gln776Ter) 886039854 MedGen:C3809811,OMIM:615528 1 65874368 65874368 C T 260693 single nucleotide variant NM_001256865.1(DNAJC6):c.2326C>T (p.Gln776Ter) 886039854 MedGen:C3809811,OMIM:615528 1 65408685 65408685 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 1 65782658 rs4916041 T A rs4916041 1 ETOPOSIDE XANTHENES|ANTINEOPLASTIC AGENTS, PHYTOGENIC|RESAZURIN|OXAZINES Drug response to Etoposide NA NA T,A intron GWASdb_drug 1 65801562 rs6588131 C A rs6588131 1 ETOPOSIDE XANTHENES|ANTINEOPLASTIC AGENTS, PHYTOGENIC|RESAZURIN|OXAZINES Drug response to Etoposide NA NA C intron GWASdb_drug 1 65808281 rs2375699 G A rs2375699 1 ETOPOSIDE XANTHENES|ANTINEOPLASTIC AGENTS, PHYTOGENIC|RESAZURIN|OXAZINES Drug response to Etoposide NA NA C intron GWASdb_drug 1 65861798 rs11208645 A G rs11208645 2.76E-05 TOPIRAMATE|FRUCTOSE ANTICONVULSANTS Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 A intron GWASdb_drug 1 65732242 rs2477786 C T rs2477786 2.10E-24 Progranulin levels HPOID:0011018 DOID:9255 C intron GWASdb_trait 1 65732242 rs2477786 C T rs2477786 2.10E-24 Myocardial infarction HPOID:0001658 DOID:5844 C intron GWASdb_trait 1 65732242 rs2477786 C T rs2477786 4.70E-06 Urinary metabolites HPOID:0000079 DOID:557 C intron GWASdb_trait 1 65782658 rs4916041 T A rs4916041 1 Drug response to Etoposide NA NA T,A intron GWASdb_trait 1 65785372 rs2281855 G A rs2281855 5.25E-05 Attention deficit hyperactivity disorder HPOID:0007018 DOID:1094 T intron GWASdb_trait 1 65801562 rs6588131 C A rs6588131 1 Drug response to Etoposide NA NA C intron GWASdb_trait 1 65808281 rs2375699 G A rs2375699 1 Drug response to Etoposide NA NA C intron GWASdb_trait 1 65815659 rs1413885 C T rs1413885 3.00E-07 Anticoagulant levels HPOID:0011111 DOID:866 T intron GWASdb_trait 1 65832352 rs7541003 A T rs7541003 5.96E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 1 65858088 rs6588144 T C rs6588144 6.85E-04 Smoking initiation HPOID:0000707 DOID:0050742 T intron GWASdb_trait 1 65859108 rs4332387 G C rs4332387 4.37E-04 Smoking initiation HPOID:0000707 DOID:0050742 C intron GWASdb_trait 1 65861798 rs11208645 A G rs11208645 2.76E-05 Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 A intron GWASdb_trait 1 65869274 rs4655762 C T rs4655762 1.90E-04 Alzheimer's disease HPOID:0002511 DOID:10652 C intron GWASdb_trait 1 65869489 rs2148682 T C rs2148682 3.03E-04 Alzheimer's disease HPOID:0002511 DOID:10652 T intron GWASdb_trait 1 65873605 rs11208646 A T rs11208646 2.47E-04 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 1 65879252 rs10493377 A G rs10493377 7.81E-05 Atopy HPOID:0001047 DOID:0060056 G UTR-3 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 rs1570868 1 65830608 65830608 intronic 0.979406 0.00903723975121941 GWAS of prostate cancer rs2281855 1 65785372 65785372 intronic 0.974016 0.0114339089790462 GWAS of prostate cancer rs10889546 1 65851759 65851759 intronic 0.945545 0.0243177975575655 GWAS of prostate cancer rs12086738 1 65807412 65807412 intronic 0.922464 0.0350505735769474 GWAS of prostate cancer rs2375699 1 65808281 65808281 intronic 0.904184 0.04374318229751151 GWAS of prostate cancer rs6588138 1 65838366 65838366 intronic 0.884864 0.053123473469698305 GWAS of prostate cancer rs6677968 1 65776702 65776702 intronic 0.81879 0.086827470078095 GWAS of prostate cancer rs2148682 1 65869489 65869489 intronic 0.78715 0.103942500214092 GWAS of prostate cancer rs10493377 1 65879252 65879252 UTR3 0.739845 0.130859256884739 GWAS of prostate cancer rs1325607 1 65751060 65751060 intronic 0.731915 0.135539352239994 GWAS of prostate cancer rs4915691 1 65867519 65867519 exonic 0.553344 0.25700479481848 GWAS of prostate cancer rs501691 1 65743827 65743827 intronic 0.51631 0.287089463365016 GWAS of prostate cancer rs11208645 1 65861798 65861798 intronic 0.478844 0.319805949996547 GWAS of prostate cancer rs1414927 1 65759731 65759731 intronic 0.467229 0.33047020924088905 GWAS of prostate cancer rs2985902 1 65762640 65762640 intronic 0.430551 0.36597539773711396 GWAS of prostate cancer rs10493374 1 65783231 65783231 intronic 0.33742 0.471829178912832 GWAS of prostate cancer rs10493375 1 65844654 65844654 intronic 0.333781 0.476538388537559 GWAS of prostate cancer rs7544627 1 65745919 65745919 intronic 0.171818 0.7649313405561039 GWAS of prostate cancer rs10789179 1 65772315 65772315 intronic 0.156689 0.804961491131823 GWAS of prostate cancer rs3818513 1 65874037 65874037 intronic 0.088299 1.05404421484759 GWAS of prostate cancer rs913199 1 65871062 65871062 intronic 0.034081 1.46748767070961

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000116675.15 DNAJC6 608375