Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 28161 single nucleotide variant NM_000537.3(REN):c.1159C>T (p.Arg387Ter) 121917740 MedGen:C4016362 1 204124206 204124206 G A 28161 single nucleotide variant NM_000537.3(REN):c.1159C>T (p.Arg387Ter) 121917740 MedGen:C4016362 1 204155078 204155078 G A 28162 single nucleotide variant NM_000537.3(REN):c.145C>T (p.Arg49Ter) 121917741 MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204131245 204131245 G A 28162 single nucleotide variant NM_000537.3(REN):c.145C>T (p.Arg49Ter) 121917741 MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204162117 204162117 G A 28163 single nucleotide variant NM_000537.3(REN):c.689G>A (p.Arg230Lys) 121917742 MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204128527 204128527 C T 28163 single nucleotide variant NM_000537.3(REN):c.689G>A (p.Arg230Lys) 121917742 MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204159399 204159399 C T 28164 deletion REN, 3-BP DEL, 45GCT -1 MedGen:C2751310,OMIM:613092,Orphanet:ORPHA217330 na -1 -1 na na 28165 single nucleotide variant NM_000537.3(REN):c.47T>G (p.Leu16Arg) 121917743 MedGen:C2751310,OMIM:613092,Orphanet:ORPHA217330 1 204135375 204135375 A C 28165 single nucleotide variant NM_000537.3(REN):c.47T>G (p.Leu16Arg) 121917743 MedGen:C2751310,OMIM:613092,Orphanet:ORPHA217330 1 204166247 204166247 A C 59370 single nucleotide variant NM_000537.3(REN):c.127C>T (p.Arg43Ter) 397514690 MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204131263 204131263 G A 59370 single nucleotide variant NM_000537.3(REN):c.127C>T (p.Arg43Ter) 397514690 MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204162135 204162135 G A 59371 single nucleotide variant NM_000537.3(REN):c.404C>A (p.Ser135Tyr) 397514691 MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204129776 204129776 G T 59371 single nucleotide variant NM_000537.3(REN):c.404C>A (p.Ser135Tyr) 397514691 MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204160648 204160648 G T 249672 single nucleotide variant NM_000537.3(REN):c.492+17T>G 5707 MedGen:CN169374 1 204160543 204160543 A C 249672 single nucleotide variant NM_000537.3(REN):c.492+17T>G 5707 MedGen:CN169374 1 204129671 204129671 A C 249673 single nucleotide variant NM_000537.3(REN):c.204A>C (p.Thr68=) 5705 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313;MedGen:CN169374 1 204162058 204162058 T G 249673 single nucleotide variant NM_000537.3(REN):c.204A>C (p.Thr68=) 5705 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313;MedGen:CN169374 1 204131186 204131186 T G 278513 single nucleotide variant NM_000537.3(REN):c.1076A>T (p.Lys359Ile) 774166976 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204124289 204124289 T A 278513 single nucleotide variant NM_000537.3(REN):c.1076A>T (p.Lys359Ile) 774166976 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204155161 204155161 T A 278514 single nucleotide variant NM_000537.3(REN):c.961-12C>A 886045834 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204125058 204125058 G T 278514 single nucleotide variant NM_000537.3(REN):c.961-12C>A 886045834 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204155930 204155930 G T 278515 single nucleotide variant NM_000537.3(REN):c.630C>T (p.Phe210=) 141706094 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204128586 204128586 G A 278515 single nucleotide variant NM_000537.3(REN):c.630C>T (p.Phe210=) 141706094 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204159458 204159458 G A 278516 single nucleotide variant NM_000537.3(REN):c.492+12C>T 548625937 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204129676 204129676 G A 278516 single nucleotide variant NM_000537.3(REN):c.492+12C>T 548625937 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204160548 204160548 G A 278526 single nucleotide variant NM_000537.3(REN):c.267G>T (p.Glu89Asp) 886045835 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204130526 204130526 C A 278526 single nucleotide variant NM_000537.3(REN):c.267G>T (p.Glu89Asp) 886045835 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204161398 204161398 C A 278527 single nucleotide variant NM_000537.3(REN):c.9A>T (p.Gly3=) 5704 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204166285 204166285 T A 278527 single nucleotide variant NM_000537.3(REN):c.9A>T (p.Gly3=) 5704 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204135413 204135413 T A 278638 single nucleotide variant NM_000537.3(REN):c.744C>A (p.Asp248Glu) 747881047 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204125879 204125879 G T 278638 single nucleotide variant NM_000537.3(REN):c.744C>A (p.Asp248Glu) 747881047 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204156751 204156751 G T 278639 single nucleotide variant NM_000537.3(REN):c.649G>A (p.Gly217Arg) 11571117 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204128567 204128567 C T 278639 single nucleotide variant NM_000537.3(REN):c.649G>A (p.Gly217Arg) 11571117 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204159439 204159439 C T 278640 single nucleotide variant NM_000537.3(REN):c.492+3A>G 5706 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204129685 204129685 T C 278640 single nucleotide variant NM_000537.3(REN):c.492+3A>G 5706 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204160557 204160557 T C 279780 single nucleotide variant NM_000537.3(REN):c.855C>T (p.Asp285=) 778959609 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204125411 204125411 G A 279780 single nucleotide variant NM_000537.3(REN):c.855C>T (p.Asp285=) 778959609 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204156283 204156283 G A 279784 single nucleotide variant NM_000537.3(REN):c.398C>T (p.Ser133Leu) 756122840 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204129782 204129782 G A 279784 single nucleotide variant NM_000537.3(REN):c.398C>T (p.Ser133Leu) 756122840 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204160654 204160654 G A 279795 single nucleotide variant NM_000537.3(REN):c.390C>T (p.Phe130=) 377092171 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204160662 204160662 G A 279795 single nucleotide variant NM_000537.3(REN):c.390C>T (p.Phe130=) 377092171 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204129790 204129790 G A 279944 single nucleotide variant NM_000537.3(REN):c.817G>C (p.Gly273Arg) 752756662 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204125806 204125806 C G 279944 single nucleotide variant NM_000537.3(REN):c.817G>C (p.Gly273Arg) 752756662 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204156678 204156678 C G 279945 single nucleotide variant NM_000537.3(REN):c.663G>A (p.Glu221=) 34069565 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204128553 204128553 C T 279945 single nucleotide variant NM_000537.3(REN):c.663G>A (p.Glu221=) 34069565 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204159425 204159425 C T 279946 single nucleotide variant NM_000537.3(REN):c.374-13G>A 201387583 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204129819 204129819 C T 279946 single nucleotide variant NM_000537.3(REN):c.374-13G>A 201387583 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204160691 204160691 C T 279952 single nucleotide variant NM_000537.3(REN):c.22C>G (p.Pro8Ala) 61746500 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204135400 204135400 G C 279952 single nucleotide variant NM_000537.3(REN):c.22C>G (p.Pro8Ala) 61746500 MedGen:CN239392;MedGen:C0266313,OMIM:267430,SNOMED CT:C0266313 1 204166272 204166272 G 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 1 204126245 rs11571087 A T rs11571087 0.0000013 CHOLESTEROL TRIGLYCERIDES|LIPOPROTEINS, LDL|LIPOPROTEINS, HDL HDL cholesterol HPOID:0003107 DOID:14502|DOID:1461|DOID:3393 T intron GWASdb_drug 1 204123671 rs11571093 G C rs11571093 2.67E-04 Multiple complex diseases HPOID:0000118 NA C nearGene-3 GWASdb_trait 1 204126245 rs11571087 A T rs11571087 0.0000013 HDL cholesterol HPOID:0003107 DOID:14502|DOID:1461|DOID:3393 T intron GWASdb_trait 1 204130233 rs11571111 C A rs11571111 2.95E-10 Cholesterol, total HPOID:0003107 DOID:3393|DOID:3146|DOID:2349 G intron GWASdb_trait 1 204130233 rs11571111 C A rs11571111 4.79E-08 Triglycerides HPOID:0003119 DOID:3393|DOID:3146|DOID:2349 G intron GWASdb_trait 1 204130233 rs11571111 C A rs11571111 8.78E-17 HDL cholesterol HPOID:0003107 DOID:14502|DOID:1461|DOID:3393 G intron GWASdb_trait 1 204132816 rs6676670 G A,T rs6676670 1.24E-04 Hearing function HPOID:0000365 DOID:2742 T intron GWASdb_trait 1 204135788 rs6668858 G A rs6668858 0.000000206 Cholesterol, total HPOID:0003107 DOID:3393|DOID:3146|DOID:2349 A nearGene-5 GWASdb_trait 1 204135788 rs6668858 G A rs6668858 2.66E-08 Triglycerides HPOID:0003119 DOID:3393|DOID:3146|DOID:2349 A nearGene-5 GWASdb_trait 1 204135788 rs6668858 G A rs6668858 6.19E-13 HDL cholesterol HPOID:0003107 DOID:14502|DOID:1461|DOID:3393 A nearGene-5 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 rs5705 1 204131186 204131186 exonic 0.855765 0.0676454797330181 GWAS of prostate cancer rs6676670 1 204132816 204132816 intronic 0.358185 0.44589260540388104 GWAS of prostate cancer rs10900555 1 204132310 204132310 intronic 0.059102 1.2283978224306402

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000213859.4 KCTD11 609848