Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 26377 single nucleotide variant NM_003588.3(CUL4B):c.1714C>T (p.Arg572Cys) 121434615 Gene:114890,MedGen:C1845861,OMIM:300354,Orphanet:ORPHA85293 X 119673204 119673204 G A 26377 single nucleotide variant NM_003588.3(CUL4B):c.1714C>T (p.Arg572Cys) 121434615 Gene:114890,MedGen:C1845861,OMIM:300354,Orphanet:ORPHA85293 X 120539349 120539349 G A 26378 single nucleotide variant NM_003588.3(CUL4B):c.1162C>T (p.Arg388Ter) 121434616 Human Phenotype Ontology:HP:0001999,MedGen:CN001810;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0001249,MedGen:C3714756;Human Phenotype Ontology:HP:0001250,MedGen:C1959629;Human Phenotype Ontology:HP:0004322,MedGen:C0349588;Gene:114890,MedGen:C1845861,OMIM:300354,Orphanet:ORPHA85293 X 119678034 119678034 G A 26378 single nucleotide variant NM_003588.3(CUL4B):c.1162C>T (p.Arg388Ter) 121434616 Human Phenotype Ontology:HP:0001999,MedGen:CN001810;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0001249,MedGen:C3714756;Human Phenotype Ontology:HP:0001250,MedGen:C1959629;Human Phenotype Ontology:HP:0004322,MedGen:C0349588;Gene:114890,MedGen:C1845861,OMIM:300354,Orphanet:ORPHA85293 X 120544179 120544179 G A 26379 single nucleotide variant NM_003588.3(CUL4B):c.901-2A>G 786200913 Gene:114890,MedGen:C1845861,OMIM:300354,Orphanet:ORPHA85293 X 120545519 120545519 T C 26379 single nucleotide variant NM_003588.3(CUL4B):c.901-2A>G 786200913 Gene:114890,MedGen:C1845861,OMIM:300354,Orphanet:ORPHA85293 X 119679374 119679374 T C 159667 copy number loss GRCh38/hg38 Xq24(chrX:120526664-120531454)x0 -1 - X 119660519 119665309 na na 159667 copy number loss GRCh38/hg38 Xq24(chrX:120526664-120531454)x0 -1 - X 120526664 120531454 na na 159667 copy number loss GRCh38/hg38 Xq24(chrX:120526664-120531454)x0 -1 - X 119544547 119549337 na na 191030 duplication NM_003588.3(CUL4B):c.1311-9dupT 777593670 MedGen:CN169374 X 119676897 119676897 A AA 191030 duplication NM_003588.3(CUL4B):c.1311-9dupT 777593670 MedGen:CN169374 X 120543042 120543042 A AA 191793 single nucleotide variant NM_003588.3(CUL4B):c.1911C>T (p.Cys637=) 148700620 MedGen:CN169374 X 119672060 119672060 G A 191793 single nucleotide variant NM_003588.3(CUL4B):c.1911C>T (p.Cys637=) 148700620 MedGen:CN169374 X 120538205 120538205 G A 205328 single nucleotide variant NM_003588.3(CUL4B):c.1906+1G>A 797044862 MeSH:D030342,MedGen:C0950123 X 119672514 119672514 C T 205328 single nucleotide variant NM_003588.3(CUL4B):c.1906+1G>A 797044862 MeSH:D030342,MedGen:C0950123 X 120538659 120538659 C T 205357 single nucleotide variant NM_003588.3(CUL4B):c.1906+1G>T 797044862 Gene:114890,MedGen:C1845861,OMIM:300354,Orphanet:ORPHA85293 X 120538659 120538659 C A 205357 single nucleotide variant NM_003588.3(CUL4B):c.1906+1G>T 797044862 Gene:114890,MedGen:C1845861,OMIM:300354,Orphanet:ORPHA85293 X 119672514 119672514 C A 205358 single nucleotide variant NM_003588.3(CUL4B):c.149C>T (p.Pro50Leu) 869320682 Gene:114890,MedGen:C1845861,OMIM:300354,Orphanet:ORPHA85293 X 119694399 119694399 G A 205358 single nucleotide variant NM_003588.3(CUL4B):c.149C>T (p.Pro50Leu) 869320682 Gene:114890,MedGen:C1845861,OMIM:300354,Orphanet:ORPHA85293 X 120560544 120560544 G A 208856 single nucleotide variant NM_003588.3(CUL4B):c.1255A>C (p.Lys419Gln) 750866615 MedGen:CN169374 X 120543782 120543782 T G 208856 single nucleotide variant NM_003588.3(CUL4B):c.1255A>C (p.Lys419Gln) 750866615 MedGen:CN169374 X 119677637 119677637 T G 237505 deletion NM_003588.3(CUL4B):c.811_812delCA (p.Gln271Aspfs) 878853152 Human Phenotype Ontology:HP:0001249,MedGen:C3714756 X 119681009 119681010 TG - 237505 deletion NM_003588.3(CUL4B):c.811_812delCA (p.Gln271Aspfs) 878853152 Human Phenotype Ontology:HP:0001249,MedGen:C3714756 X 120547154 120547155 TG - 260277 deletion NM_003588.3(CUL4B):c.2243_2244delTT (p.Phe748Serfs) 886039718 MedGen:CN221809 X 119668412 119668413 AA - 260277 deletion NM_003588.3(CUL4B):c.2243_2244delTT (p.Phe748Serfs) 886039718 MedGen:CN221809 X 120534557 120534558 AA - 271917 single nucleotide variant NM_003588.3(CUL4B):c.1359A>T (p.Leu453Phe) 886043694 MedGen:CN169374 X 119676840 119676840 T A 271917 single nucleotide variant NM_003588.3(CUL4B):c.1359A>T (p.Leu453Phe) 886043694 MedGen:CN169374 X 120542985 120542985 T A 272260 single nucleotide variant NM_003588.3(CUL4B):c.652C>A (p.Gln218Lys) 886043788 MedGen:CN169374 X 119691853 119691853 G T 272260 single nucleotide variant NM_003588.3(CUL4B):c.652C>A (p.Gln218Lys) 886043788 MedGen:CN169374 X 120557998 120557998 G T 360517 single nucleotide variant NM_003588.3(CUL4B):c.686A>G (p.Asn229Ser) 1057518443 MedGen:CN169374 X 120557964 120557964 T C 360517 single nucleotide variant NM_003588.3(CUL4B):c.686A>G (p.Asn229Ser) 1057518443 MedGen:CN169374 X 119691819 119691819 T C 360518 single nucleotide variant NM_003588.3(CUL4B):c.685A>G (p.Asn229Asp) 1057518220 MedGen:CN169374 X 120557965 120557965 T C 360518 single nucleotide variant NM_003588.3(CUL4B):c.685A>G (p.Asn229Asp) 1057518220 MedGen:CN169374 X 119691820 119691820 T C 360525 deletion NM_003588.3(CUL4B):c.2691_2692delCT (p.Asp897Glufs) 1057518598 MedGen:CN221809 X 120526811 120526812 AG - 360525 deletion NM_003588.3(CUL4B):c.2691_2692delCT (p.Asp897Glufs) 1057518598 MedGen:CN221809 X 119660666 119660667 AG - 360569 single nucleotide variant NM_003588.3(CUL4B):c.476A>G (p.Asn159Ser) 1057518039 MedGen:CN221809 X 120560217 120560217 T C 360569 single nucleotide variant NM_003588.3(CUL4B):c.476A>G (p.Asn159Ser) 1057518039 MedGen:CN221809 X 119694072 119694072 T C

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 119695624 rs2285550 A G rs2285550 9.78E-05 Lung function (forced expiratory volume in 1 second) HPOID:0002088 DOID:850 A 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 rs12688345 X 119664545 119664545 intronic 0.454557 0.342411649882458 GWAS of prostate cancer rs12393998 X 119700082 119700082 intronic 0.431348 0.365172211283171 GWAS of prostate cancer rs2285550 X 119695624 119695624 intronic 0.000037 4.43179827593301

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000158290.16 CUL4B 300304