Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 139348 single nucleotide variant NM_006618.4(KDM5B):c.1701+1G>A 367537995 MedGen:CN221809 1 202722032 202722032 C T 139348 single nucleotide variant NM_006618.4(KDM5B):c.1701+1G>A 367537995 MedGen:CN221809 1 202752904 202752904 C T 225872 single nucleotide variant NM_001314042.1(KDM5B):c.3835C>T (p.Arg1279Ter) 869312703 MedGen:CN169374 1 202733583 202733583 G A 225872 single nucleotide variant NM_001314042.1(KDM5B):c.3835C>T (p.Arg1279Ter) 869312703 MedGen:CN169374 1 202702711 202702711 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 202726145 rs12132801 G A rs12132801 2.00E-04 TOPIRAMATE|FRUCTOSE ANTICONVULSANTS Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 G intron GWASdb_drug 1 202725286 rs3820153 A G rs3820153 5.09E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 1 202726145 rs12132801 G A rs12132801 2.00E-04 Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 G intron GWASdb_trait 1 202734579 rs7519148 A G rs7519148 5.13E-05 Bipolar disorder and schizophrenia HPOID:0007302|HPOID:0100753 DOID:3312|DOID:5419 A intron GWASdb_trait 1 202761823 rs12132992 C G rs12132992 2.13E-04 Type 2 diabetes HPOID:0005978 DOID:9352 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 rs2363965 1 202716131 202716131 intronic 0.684267 0.16477440412685698 GWAS of prostate cancer rs3196669 1 202733238 202733238 exonic 0.651959 0.185779715055864 GWAS of prostate cancer rs4245713 1 202778261 202778261 upstream 0.602532 0.220019883102681 GWAS of prostate cancer rs4950952 1 202739602 202739602 intronic 0.592107 0.227599804576836 GWAS of prostate cancer rs4351714 1 202760658 202760658 intronic 0.44508 0.351561920623765 GWAS of prostate cancer rs4348778 1 202696247 202696247 downstream 0.41853 0.37827340656559305 GWAS of prostate cancer rs3795600 1 202710320 202710320 intronic 0.320079 0.494742818462227 GWAS of prostate cancer rs4310498 1 202703053 202703053 intronic 0.268732 0.570680615680895 GWAS of prostate cancer rs6427967 1 202765279 202765279 intronic 0.170411 0.768502375032273

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000117139.16 KDM5B 605393