Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 181399 deletion NM_016121.4(KCTD3):c.1036_1073del38 (p.Pro346Thrfs) 730882243 Human Phenotype Ontology:HP:0001321,MedGen:CN001210;Human Phenotype Ontology:HP:0001250,MedGen:C1959629;Human Phenotype Ontology:HP:0011344,MedGen:CN167072 1 215602099 215602136 na na 181399 deletion NM_016121.4(KCTD3):c.1036_1073del38 (p.Pro346Thrfs) 730882243 Human Phenotype Ontology:HP:0001321,MedGen:CN001210;Human Phenotype Ontology:HP:0001250,MedGen:C1959629;Human Phenotype Ontology:HP:0011344,MedGen:CN167072 1 215775441 215775478 na na 223150 copy number gain NC_000001.10:g.215747156_215751043dup3888 -1 MedGen:C1527349 1 215747156 215751043 na na

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 rs11803705 1 215753355 215753355 intronic 0.661995 0.17914529074248997

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000136636.12 KCTD3 613272