Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 48296 single nucleotide variant DNAJB2, IVS5DS, G-A, +1 -1 MedGen:C3553989,OMIM:614881,Orphanet:ORPHA314485 na -1 -1 na na 140821 single nucleotide variant NM_001039550.1(DNAJB2):c.66-14C>T 2276638 MedGen:CN169374 2 220145286 220145286 C T 140821 single nucleotide variant NM_001039550.1(DNAJB2):c.66-14C>T 2276638 MedGen:CN169374 2 219280564 219280564 C T 140822 single nucleotide variant NM_001039550.1(DNAJB2):c.230-10G>A 3731897 MedGen:CN169374 2 220146651 220146651 G A 140822 single nucleotide variant NM_001039550.1(DNAJB2):c.230-10G>A 3731897 MedGen:CN169374 2 219281929 219281929 G A 181182 single nucleotide variant NM_001039550.1(DNAJB2):c.229+1G>A 730882139 MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:C0007959;MedGen:C3553989,OMIM:614881,Orphanet:ORPHA314485 2 220146494 220146494 G A 181182 single nucleotide variant NM_001039550.1(DNAJB2):c.229+1G>A 730882139 MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:C0007959;MedGen:C3553989,OMIM:614881,Orphanet:ORPHA314485 2 219281772 219281772 G A 181183 single nucleotide variant NM_001039550.1(DNAJB2):c.14A>G (p.Tyr5Cys) 730882140 MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:C0007959;MedGen:C3553989,OMIM:614881,Orphanet:ORPHA314485 2 220144569 220144569 A G 181183 single nucleotide variant NM_001039550.1(DNAJB2):c.14A>G (p.Tyr5Cys) 730882140 MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:C0007959;MedGen:C3553989,OMIM:614881,Orphanet:ORPHA314485 2 219279847 219279847 A G 205729 single nucleotide variant NM_001039550.1(DNAJB2):c.343G>T (p.Glu115Ter) 797045039 MedGen:CN226589,OMIM:617017 2 220146774 220146774 G T 205729 single nucleotide variant NM_001039550.1(DNAJB2):c.343G>T (p.Glu115Ter) 797045039 MedGen:CN226589,OMIM:617017 2 219282052 219282052 G T 214533 single nucleotide variant NM_001039550.1(DNAJB2):c.352+1G>A 756614404 MedGen:C3553989,OMIM:614881,Orphanet:ORPHA314485 2 220146784 220146784 G A 214533 single nucleotide variant NM_001039550.1(DNAJB2):c.352+1G>A 756614404 MedGen:C3553989,OMIM:614881,Orphanet:ORPHA314485 2 219282062 219282062 G A 231511 single nucleotide variant NM_001039550.1(DNAJB2):c.230-2A>G 369661561 MedGen:CN221809 2 219281937 219281937 A G 231511 single nucleotide variant NM_001039550.1(DNAJB2):c.230-2A>G 369661561 MedGen:CN221809 2 220146659 220146659 A G 231521 single nucleotide variant NM_001039550.1(DNAJB2):c.473G>T (p.Ser158Ile) 780605624 MedGen:CN169374 2 219283160 219283160 G T 231521 single nucleotide variant NM_001039550.1(DNAJB2):c.473G>T (p.Ser158Ile) 780605624 MedGen:CN169374 2 220147882 220147882 G T 244152 deletion NM_001039550.1(DNAJB2):c.309delC (p.Arg104Glyfs) 879253868 MedGen:C3553989,OMIM:614881,Orphanet:ORPHA314485 2 219282018 219282018 C - 244152 deletion NM_001039550.1(DNAJB2):c.309delC (p.Arg104Glyfs) 879253868 MedGen:C3553989,OMIM:614881,Orphanet:ORPHA314485 2 220146740 220146740 C - 244340 single nucleotide variant NM_001039550.1(DNAJB2):c.311G>A (p.Arg104Gln) 145429721 MedGen:CN169374 2 220146742 220146742 G A 244340 single nucleotide variant NM_001039550.1(DNAJB2):c.311G>A (p.Arg104Gln) 145429721 MedGen:CN169374 2 219282020 219282020 G A 244341 single nucleotide variant NM_001039550.1(DNAJB2):c.664G>A (p.Glu222Lys) 201861589 MedGen:CN169374 2 220149398 220149398 G A 244341 single nucleotide variant NM_001039550.1(DNAJB2):c.664G>A (p.Glu222Lys) 201861589 MedGen:CN169374 2 219284676 219284676 G A 244342 single nucleotide variant NM_001039550.1(DNAJB2):c.761A>G (p.Asp254Gly) 770788678 MedGen:CN169374 2 220149495 220149495 A G 244342 single nucleotide variant NM_001039550.1(DNAJB2):c.761A>G (p.Asp254Gly) 770788678 MedGen:CN169374 2 219284773 219284773 A G 245298 single nucleotide variant NM_001039550.1(DNAJB2):c.620-1G>A 764813110 MedGen:C3553989,OMIM:614881,Orphanet:ORPHA314485 2 220149353 220149353 G A 245298 single nucleotide variant NM_001039550.1(DNAJB2):c.620-1G>A 764813110 MedGen:C3553989,OMIM:614881,Orphanet:ORPHA314485 2 219284631 219284631 G A 248727 deletion NG_029553.1:g.3620_7471del3852 -1 MedGen:C3553989,OMIM:614881,Orphanet:ORPHA314485 2 219277937 219281788 na na 248727 deletion NG_029553.1:g.3620_7471del3852 -1 MedGen:C3553989,OMIM:614881,Orphanet:ORPHA314485 2 220142659 220146510 na na 274228 single nucleotide variant NM_001039550.1(DNAJB2):c.808G>C (p.Gly270Arg) 34127289 MedGen:CN169374 2 220149542 220149542 G C 274228 single nucleotide variant NM_001039550.1(DNAJB2):c.808G>C (p.Gly270Arg) 34127289 MedGen:CN169374 2 219284820 219284820 G C 359344 single nucleotide variant NM_001039550.1(DNAJB2):c.200G>A (p.Arg67His) 11559157 MedGen:CN169374 2 219281742 219281742 G A 359344 single nucleotide variant NM_001039550.1(DNAJB2):c.200G>A (p.Arg67His) 11559157 MedGen:CN169374 2 220146464 220146464 G A

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 rs6436131 2 220151858 220151858 downstream 0.93762 0.0279731374639967 GWAS of prostate cancer rs7596956 2 220152359 220152359 downstream 0.775521 0.110406437617445

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000135924.15 DNAJB2 604139