Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 24811 single nucleotide variant NM_004187.3(KDM5C):c.2191C>T (p.Leu731Phe) 199422234 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53228211 53228211 G A 24811 single nucleotide variant NM_004187.3(KDM5C):c.2191C>T (p.Leu731Phe) 199422234 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53199029 53199029 G A 24812 insertion KDM5C, 1-BP INS, 202C -1 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 na -1 -1 na na 24813 single nucleotide variant NM_004187.3(KDM5C):c.1162G>C (p.Ala388Pro) 199422235 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53241049 53241049 C G 24813 single nucleotide variant NM_004187.3(KDM5C):c.1162G>C (p.Ala388Pro) 199422235 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53211867 53211867 C G 24814 single nucleotide variant NM_004187.3(KDM5C):c.2080C>T (p.Arg694Ter) 199422236 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53228322 53228322 G A 24814 single nucleotide variant NM_004187.3(KDM5C):c.2080C>T (p.Arg694Ter) 199422236 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53199140 53199140 G A 24815 single nucleotide variant NM_004187.3(KDM5C):c.1353C>G (p.Ser451Arg) 199422237 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53240727 53240727 G C 24815 single nucleotide variant NM_004187.3(KDM5C):c.1353C>G (p.Ser451Arg) 199422237 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53211545 53211545 G C 24816 single nucleotide variant NM_004187.3(KDM5C):c.2296C>T (p.Arg766Trp) 199422238 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53228018 53228018 G A 24816 single nucleotide variant NM_004187.3(KDM5C):c.2296C>T (p.Arg766Trp) 199422238 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53198836 53198836 G A 24817 single nucleotide variant NM_004187.3(KDM5C):c.229G>A (p.Ala77Thr) 199422239 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53247580 53247580 C T 24817 single nucleotide variant NM_004187.3(KDM5C):c.229G>A (p.Ala77Thr) 199422239 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53218398 53218398 C T 38951 single nucleotide variant NM_004187.3(KDM5C):c.2172C>A (p.Cys724Ter) 281860639 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53228230 53228230 G T 38951 single nucleotide variant NM_004187.3(KDM5C):c.2172C>A (p.Cys724Ter) 281860639 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53199048 53199048 G T 38952 single nucleotide variant NM_004187.3(KDM5C):c.1660C>A (p.Pro554Thr) 387906729 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53239682 53239682 G T 38952 single nucleotide variant NM_004187.3(KDM5C):c.1660C>A (p.Pro554Thr) 387906729 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53210500 53210500 G T 97437 single nucleotide variant NM_004187.3(KDM5C):c.4231G>A (p.Val1411Met) 386352320 MedGen:CN221809 X 53222705 53222705 C T 97437 single nucleotide variant NM_004187.3(KDM5C):c.4231G>A (p.Val1411Met) 386352320 MedGen:CN221809 X 53193523 53193523 C T 100771 single nucleotide variant NM_004187.3(KDM5C):c.1794C>T (p.Pro598=) 35353912 MedGen:C0037772;MedGen:CN169374 X 53231108 53231108 G A 100771 single nucleotide variant NM_004187.3(KDM5C):c.1794C>T (p.Pro598=) 35353912 MedGen:C0037772;MedGen:CN169374 X 53201926 53201926 G A 100772 single nucleotide variant NM_004187.3(KDM5C):c.2243+11G>T 1977364 MedGen:CN169374 X 53228148 53228148 C A 100772 single nucleotide variant NM_004187.3(KDM5C):c.2243+11G>T 1977364 MedGen:CN169374 X 53198966 53198966 C A 100774 duplication NM_004187.3(KDM5C):c.2517-9_2517-7dupACT 398124111 MedGen:C0037772;MedGen:CN221809;MedGen:CN169374 X 53227065 53227067 AGT AGTAGT 100774 duplication NM_004187.3(KDM5C):c.2517-9_2517-7dupACT 398124111 MedGen:C0037772;MedGen:CN221809;MedGen:CN169374 X 53197883 53197885 AGT AGTAGT 100775 single nucleotide variant NM_004187.3(KDM5C):c.2662C>T (p.Arg888Cys) 376775932 MedGen:CN169374 X 53226187 53226187 G A 100775 single nucleotide variant NM_004187.3(KDM5C):c.2662C>T (p.Arg888Cys) 376775932 MedGen:CN169374 X 53197005 53197005 G A 100776 single nucleotide variant NM_004187.3(KDM5C):c.3300+8C>T 398124112 MedGen:CN221809 X 53224405 53224405 G A 100776 single nucleotide variant NM_004187.3(KDM5C):c.3300+8C>T 398124112 MedGen:CN221809 X 53195223 53195223 G A 100777 single nucleotide variant NM_004187.3(KDM5C):c.3381A>G (p.Lys1127=) 370000816 MedGen:CN169374 X 53224170 53224170 T C 100777 single nucleotide variant NM_004187.3(KDM5C):c.3381A>G (p.Lys1127=) 370000816 MedGen:CN169374 X 53194988 53194988 T C 100778 single nucleotide variant NM_004187.3(KDM5C):c.3990C>G (p.Ala1330=) 143291826 MedGen:CN169374 X 53223369 53223369 G C 100778 single nucleotide variant NM_004187.3(KDM5C):c.3990C>G (p.Ala1330=) 143291826 MedGen:CN169374 X 53194187 53194187 G C 100779 single nucleotide variant NM_004187.3(KDM5C):c.4637G>A (p.Arg1546Gln) 139569882 MedGen:CN169374 X 53222195 53222195 C T 100779 single nucleotide variant NM_004187.3(KDM5C):c.4637G>A (p.Arg1546Gln) 139569882 MedGen:CN169374 X 53193013 53193013 C T 100780 single nucleotide variant NM_004187.3(KDM5C):c.4668T>C (p.Pro1556=) 398124113 MedGen:CN221809 X 53222164 53222164 A G 100780 single nucleotide variant NM_004187.3(KDM5C):c.4668T>C (p.Pro1556=) 398124113 MedGen:CN221809 X 53192982 53192982 A G 100781 single nucleotide variant NM_004187.3(KDM5C):c.4674A>G (p.Gln1558=) 398124114 MedGen:CN169374 X 53222158 53222158 T C 100781 single nucleotide variant NM_004187.3(KDM5C):c.4674A>G (p.Gln1558=) 398124114 MedGen:CN169374 X 53192976 53192976 T C 100782 single nucleotide variant NM_004187.3(KDM5C):c.564G>A (p.Lys188=) 61751437 MedGen:CN169374 X 53246418 53246418 C T 100782 single nucleotide variant NM_004187.3(KDM5C):c.564G>A (p.Lys188=) 61751437 MedGen:CN169374 X 53217236 53217236 C T 134818 single nucleotide variant NM_004187.3(KDM5C):c.2987A>G (p.Lys996Arg) 587780371 MedGen:CN221809 X 53225231 53225231 T C 134818 single nucleotide variant NM_004187.3(KDM5C):c.2987A>G (p.Lys996Arg) 587780371 MedGen:CN221809 X 53196049 53196049 T C 134819 single nucleotide variant NM_004187.3(KDM5C):c.1236C>T (p.Pro412=) 147546892 MedGen:CN169374 X 53240975 53240975 G A 134819 single nucleotide variant NM_004187.3(KDM5C):c.1236C>T (p.Pro412=) 147546892 MedGen:CN169374 X 53211793 53211793 G A 134820 single nucleotide variant NM_004187.3(KDM5C):c.1613C>T (p.Pro538Leu) 587780372 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53239729 53239729 G A 134820 single nucleotide variant NM_004187.3(KDM5C):c.1613C>T (p.Pro538Leu) 587780372 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53210547 53210547 G A 134821 single nucleotide variant NM_004187.3(KDM5C):c.1884G>A (p.Gln628=) 74850270 MedGen:CN169374 X 53230909 53230909 C T 134821 single nucleotide variant NM_004187.3(KDM5C):c.1884G>A (p.Gln628=) 74850270 MedGen:CN169374 X 53201727 53201727 C T 138326 single nucleotide variant NM_004187.3(KDM5C):c.2507A>G (p.Gln836Arg) 192633186 MedGen:CN169374 X 53227681 53227681 T C 138326 single nucleotide variant NM_004187.3(KDM5C):c.2507A>G (p.Gln836Arg) 192633186 MedGen:CN169374 X 53198499 53198499 T C 138327 single nucleotide variant NM_004187.3(KDM5C):c.2705A>G (p.Gln902Arg) 797044472 MedGen:CN169374 X 53226144 53226144 T C 138327 single nucleotide variant NM_004187.3(KDM5C):c.2705A>G (p.Gln902Arg) 797044472 MedGen:CN169374 X 53196962 53196962 T C 138328 single nucleotide variant NM_004187.3(KDM5C):c.4030A>G (p.Met1344Val) 797044473 MedGen:CN169374 X 53223329 53223329 T C 138328 single nucleotide variant NM_004187.3(KDM5C):c.4030A>G (p.Met1344Val) 797044473 MedGen:CN169374 X 53194147 53194147 T C 138329 single nucleotide variant NM_001146702.1(KDM5C):c.4049C>G (p.Pro1350Arg) 781910906 MedGen:CN169374 X 53222017 53222017 G C 138329 single nucleotide variant NM_001146702.1(KDM5C):c.4049C>G (p.Pro1350Arg) 781910906 MedGen:CN169374 X 53192835 53192835 G C 138330 single nucleotide variant NM_004187.3(KDM5C):c.738G>C (p.Met246Ile) 797044474 MedGen:CN169374 X 53245299 53245299 C G 138330 single nucleotide variant NM_004187.3(KDM5C):c.738G>C (p.Met246Ile) 797044474 MedGen:CN169374 X 53216117 53216117 C G 138331 single nucleotide variant NM_004187.3(KDM5C):c.4597A>C (p.Thr1533Pro) 145666414 MedGen:CN169374 X 53222235 53222235 T G 138331 single nucleotide variant NM_004187.3(KDM5C):c.4597A>C (p.Thr1533Pro) 145666414 MedGen:CN169374 X 53193053 53193053 T G 138332 single nucleotide variant NM_004187.3(KDM5C):c.4498G>A (p.Glu1500Lys) 782774569 MedGen:CN169374 X 53222334 53222334 C T 138332 single nucleotide variant NM_004187.3(KDM5C):c.4498G>A (p.Glu1500Lys) 782774569 MedGen:CN169374 X 53193152 53193152 C T 177596 single nucleotide variant NM_004187.3(KDM5C):c.1764G>A (p.Gln588=) 61733871 MedGen:C0037772;MedGen:CN169374 X 53231138 53231138 C T 177596 single nucleotide variant NM_004187.3(KDM5C):c.1764G>A (p.Gln588=) 61733871 MedGen:C0037772;MedGen:CN169374 X 53201956 53201956 C T 177597 single nucleotide variant NM_004187.3(KDM5C):c.25C>T (p.Leu9=) 782183376 MedGen:CN169374 X 53254047 53254047 G A 177597 single nucleotide variant NM_004187.3(KDM5C):c.25C>T (p.Leu9=) 782183376 MedGen:CN169374 X 53224865 53224865 G A 192762 indel NM_004187.3(KDM5C):c.3126_3128delTGAinsCAGG (p.Asp1043Argfs) 797044682 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53224585 53224587 TCA CCTG 192762 indel NM_004187.3(KDM5C):c.3126_3128delTGAinsCAGG (p.Asp1043Argfs) 797044682 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53195403 53195405 TCA CCTG 193040 single nucleotide variant NM_004187.3(KDM5C):c.4304G>A (p.Arg1435His) 782413552 MedGen:CN169374 X 53222632 53222632 C T 193040 single nucleotide variant NM_004187.3(KDM5C):c.4304G>A (p.Arg1435His) 782413552 MedGen:CN169374 X 53193450 53193450 C T 193129 single nucleotide variant NM_004187.3(KDM5C):c.4318-15T>G 797044694 MedGen:CN169374 X 53222529 53222529 A C 193129 single nucleotide variant NM_004187.3(KDM5C):c.4318-15T>G 797044694 MedGen:CN169374 X 53193347 53193347 A C 193130 single nucleotide variant NM_004187.3(KDM5C):c.4338C>T (p.His1446=) 797044695 MedGen:CN169374 X 53222494 53222494 G A 193130 single nucleotide variant NM_004187.3(KDM5C):c.4338C>T (p.His1446=) 797044695 MedGen:CN169374 X 53193312 53193312 G A 193536 single nucleotide variant NM_004187.3(KDM5C):c.351+1G>T 797044706 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53247457 53247457 C A 193536 single nucleotide variant NM_004187.3(KDM5C):c.351+1G>T 797044706 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53218275 53218275 C A 194389 single nucleotide variant NM_004187.3(KDM5C):c.486T>A (p.Tyr162Ter) 797044731 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53247014 53247014 A T 194389 single nucleotide variant NM_004187.3(KDM5C):c.486T>A (p.Tyr162Ter) 797044731 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53217832 53217832 A T 209091 single nucleotide variant NM_004187.3(KDM5C):c.4611G>A (p.Ser1537=) 149733911 MedGen:CN169374 X 53193039 53193039 C T 209091 single nucleotide variant NM_004187.3(KDM5C):c.4611G>A (p.Ser1537=) 149733911 MedGen:CN169374 X 53222221 53222221 C T 209092 single nucleotide variant NM_004187.3(KDM5C):c.3551C>T (p.Thr1184Ile) 782523306 MedGen:CN169374 X 53223808 53223808 G A 209092 single nucleotide variant NM_004187.3(KDM5C):c.3551C>T (p.Thr1184Ile) 782523306 MedGen:CN169374 X 53194626 53194626 G A 209093 single nucleotide variant NM_004187.3(KDM5C):c.3118C>T (p.Gln1040Ter) 782246658 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53195918 53195918 G A 209093 single nucleotide variant NM_004187.3(KDM5C):c.3118C>T (p.Gln1040Ter) 782246658 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53225100 53225100 G A 209094 single nucleotide variant NM_004187.3(KDM5C):c.2823A>G (p.Ser941=) 143955805 MedGen:CN169374 X 53196844 53196844 T C 209094 single nucleotide variant NM_004187.3(KDM5C):c.2823A>G (p.Ser941=) 143955805 MedGen:CN169374 X 53226026 53226026 T C 209095 single nucleotide variant NM_004187.3(KDM5C):c.2726G>A (p.Arg909Gln) 148661902 MedGen:CN169374 X 53196941 53196941 C T 209095 single nucleotide variant NM_004187.3(KDM5C):c.2726G>A (p.Arg909Gln) 148661902 MedGen:CN169374 X 53226123 53226123 C T 209096 single nucleotide variant NM_004187.3(KDM5C):c.2243G>C (p.Arg748Pro) 797045640 MedGen:CN169374 X 53228159 53228159 C G 209096 single nucleotide variant NM_004187.3(KDM5C):c.2243G>C (p.Arg748Pro) 797045640 MedGen:CN169374 X 53198977 53198977 C G 209097 single nucleotide variant NM_004187.3(KDM5C):c.1495G>A (p.Val499Met) 797045639 MedGen:CN169374 X 53210764 53210764 C T 209097 single nucleotide variant NM_004187.3(KDM5C):c.1495G>A (p.Val499Met) 797045639 MedGen:CN169374 X 53239946 53239946 C T 209098 single nucleotide variant NM_004187.3(KDM5C):c.608C>T (p.Pro203Leu) 797045641 MedGen:CN169374 X 53246374 53246374 G A 209098 single nucleotide variant NM_004187.3(KDM5C):c.608C>T (p.Pro203Leu) 797045641 MedGen:CN169374 X 53217192 53217192 G A 209099 single nucleotide variant NM_004187.3(KDM5C):c.536G>A (p.Arg179His) 201805773 MedGen:CN169374 X 53246446 53246446 C T 209099 single nucleotide variant NM_004187.3(KDM5C):c.536G>A (p.Arg179His) 201805773 MedGen:CN169374 X 53217264 53217264 C T 237508 single nucleotide variant NM_004187.3(KDM5C):c.2152G>C (p.Ala718Pro) 878853141 Human Phenotype Ontology:HP:0001249,MedGen:C3714756 X 53199068 53199068 C G 237508 single nucleotide variant NM_004187.3(KDM5C):c.2152G>C (p.Ala718Pro) 878853141 Human Phenotype Ontology:HP:0001249,MedGen:C3714756 X 53228250 53228250 C G 237509 duplication NM_004187.3(KDM5C):c.1296dupT (p.Glu433Terfs) 878853151 Human Phenotype Ontology:HP:0001249,MedGen:C3714756 X 53211602 53211602 A AA 237509 duplication NM_004187.3(KDM5C):c.1296dupT (p.Glu433Terfs) 878853151 Human Phenotype Ontology:HP:0001249,MedGen:C3714756 X 53240784 53240784 A AA 247202 single nucleotide variant NM_004187.3(KDM5C):c.4303C>T (p.Arg1435Cys) 140506776 MedGen:CN169374 X 53222633 53222633 G A 247202 single nucleotide variant NM_004187.3(KDM5C):c.4303C>T (p.Arg1435Cys) 140506776 MedGen:CN169374 X 53193451 53193451 G A 248653 single nucleotide variant NM_004187.3(KDM5C):c.156G>T (p.Trp52Cys) 886037836 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53220911 53220911 C A 248653 single nucleotide variant NM_004187.3(KDM5C):c.156G>T (p.Trp52Cys) 886037836 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53250093 53250093 C A 260335 single nucleotide variant NM_004187.3(KDM5C):c.3880C>T (p.Gln1294Ter) 782663655 MedGen:CN221809 X 53223479 53223479 G A 260335 single nucleotide variant NM_004187.3(KDM5C):c.3880C>T (p.Gln1294Ter) 782663655 MedGen:CN221809 X 53194297 53194297 G A 265166 single nucleotide variant NM_004187.3(KDM5C):c.1402-2A>G 886041855 MedGen:CN221809 X 53240041 53240041 T C 265166 single nucleotide variant NM_004187.3(KDM5C):c.1402-2A>G 886041855 MedGen:CN221809 X 53210859 53210859 T C 265775 single nucleotide variant NM_004187.3(KDM5C):c.108C>T (p.Pro36=) 139309563 MedGen:CN169374 X 53253964 53253964 G A 265775 single nucleotide variant NM_004187.3(KDM5C):c.108C>T (p.Pro36=) 139309563 MedGen:CN169374 X 53224782 53224782 G A 267448 single nucleotide variant NM_004187.3(KDM5C):c.3540G>A (p.Thr1180=) 76525703 MedGen:CN169374 X 53223819 53223819 C T 267448 single nucleotide variant NM_004187.3(KDM5C):c.3540G>A (p.Thr1180=) 76525703 MedGen:CN169374 X 53194637 53194637 C T 268744 insertion NM_004187.3(KDM5C):c.411_412insTA (p.Ala138Terfs) 1057515581 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53247088 53247089 - TA 268744 insertion NM_004187.3(KDM5C):c.411_412insTA (p.Ala138Terfs) 1057515581 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53217906 53217907 - TA 272070 single nucleotide variant NM_004187.3(KDM5C):c.465C>T (p.Ser155=) 138520224 MedGen:CN169374 X 53247035 53247035 G A 272070 single nucleotide variant NM_004187.3(KDM5C):c.465C>T (p.Ser155=) 138520224 MedGen:CN169374 X 53217853 53217853 G A 273655 single nucleotide variant NM_004187.3(KDM5C):c.1440G>C (p.Pro480=) 143784215 MedGen:CN169374 X 53240001 53240001 C G 273655 single nucleotide variant NM_004187.3(KDM5C):c.1440G>C (p.Pro480=) 143784215 MedGen:CN169374 X 53210819 53210819 C G 360633 duplication NM_004187.3(KDM5C):c.3404dupT (p.Ser1136Valfs) 1057518172 MedGen:CN221809 X 53194965 53194965 A AA 360633 duplication NM_004187.3(KDM5C):c.3404dupT (p.Ser1136Valfs) 1057518172 MedGen:CN221809 X 53224147 53224147 A AA 360663 single nucleotide variant NM_004187.3(KDM5C):c.2092G>A (p.Glu698Lys) 1057517955 MedGen:CN221809 X 53228310 53228310 C T 360663 single nucleotide variant NM_004187.3(KDM5C):c.2092G>A (p.Glu698Lys) 1057517955 MedGen:CN221809 X 53199128 53199128 C T 361245 single nucleotide variant NM_004187.3(KDM5C):c.1439C>T (p.Pro480Leu) 1057518697 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53240002 53240002 G A 361245 single nucleotide variant NM_004187.3(KDM5C):c.1439C>T (p.Pro480Leu) 1057518697 MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279 X 53210820 53210820 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 X 53227343 rs2182285 A G rs2182285 9.28E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait X 53241443 rs5933533 T C rs5933533 9.27E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait X 53242303 rs6638372 T C rs6638372 9.39E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T 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 rs4532742 X 53234484 53234484 intronic 0.67769 0.168968922766144

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000126012.11 KDM5C 314690