Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 15570 deletion DCAF17, 1-BP DEL, 50C -1 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 na -1 -1 na na 15571 single nucleotide variant DCAF17, IVS13, G-T, +5 -1 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 na -1 -1 na na 15572 single nucleotide variant DCAF17, IVS10, T-G, +6 -1 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 na -1 -1 na na 40264 single nucleotide variant DCAF17, TRP129TER -1 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 na -1 -1 na na 40265 single nucleotide variant DCAF17, TRP302TER -1 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 na -1 -1 na na 40266 single nucleotide variant DCAF17, SER114TER -1 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 na -1 -1 na na 40267 indel DCAF17, 3-BP DEL/2-BP INS, 127TAG/AA -1 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 na -1 -1 na na 134333 single nucleotide variant NM_025000.3(DCAF17):c.1183-6T>C 587780328 MedGen:CN221809 2 172334491 172334491 T C 134333 single nucleotide variant NM_025000.3(DCAF17):c.1183-6T>C 587780328 MedGen:CN221809 2 171477981 171477981 T C 134334 single nucleotide variant NM_025000.3(DCAF17):c.1267-7C>T 3731981 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286;MedGen:CN169374 2 171480031 171480031 C T 134334 single nucleotide variant NM_025000.3(DCAF17):c.1267-7C>T 3731981 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286;MedGen:CN169374 2 172336541 172336541 C T 134335 single nucleotide variant NM_025000.3(DCAF17):c.1320T>C (p.Ala440=) 3731980 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286;MedGen:CN169374 2 171480091 171480091 T C 134335 single nucleotide variant NM_025000.3(DCAF17):c.1320T>C (p.Ala440=) 3731980 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286;MedGen:CN169374 2 172336601 172336601 T C 134336 single nucleotide variant NM_025000.3(DCAF17):c.150C>T (p.Val50=) 6751956 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286;MedGen:CN169374 2 171435106 171435106 C T 134336 single nucleotide variant NM_025000.3(DCAF17):c.150C>T (p.Val50=) 6751956 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286;MedGen:CN169374 2 172291616 172291616 C T 134337 single nucleotide variant NM_025000.3(DCAF17):c.555T>A (p.His185Gln) 3731984 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286;MedGen:CN169374 2 171453141 171453141 T A 134337 single nucleotide variant NM_025000.3(DCAF17):c.555T>A (p.His185Gln) 3731984 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286;MedGen:CN169374 2 172309651 172309651 T A 134338 single nucleotide variant NM_025000.3(DCAF17):c.939G>A (p.Gln313=) 61731491 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286;MedGen:CN169374 2 171468988 171468988 G A 134338 single nucleotide variant NM_025000.3(DCAF17):c.939G>A (p.Gln313=) 61731491 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286;MedGen:CN169374 2 172325498 172325498 G A 134339 single nucleotide variant NM_025000.3(DCAF17):c.999A>G (p.Gln333=) 3731983 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286;MedGen:CN169374 2 171473883 171473883 A G 134339 single nucleotide variant NM_025000.3(DCAF17):c.999A>G (p.Gln333=) 3731983 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286;MedGen:CN169374 2 172330393 172330393 A G 189063 single nucleotide variant NM_025000.3(DCAF17):c.322-14C>T 192861143 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286;MedGen:CN221809 2 172305177 172305177 C T 189063 single nucleotide variant NM_025000.3(DCAF17):c.322-14C>T 192861143 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286;MedGen:CN221809 2 171448667 171448667 C T 189112 deletion NM_025000.3(DCAF17):c.322-14delC 201494527 MedGen:CN221809 2 172305177 172305177 C - 189112 deletion NM_025000.3(DCAF17):c.322-14delC 201494527 MedGen:CN221809 2 171448667 171448667 C - 189113 deletion NM_025000.3(DCAF17):c.459-7_499del48 786205638 MedGen:CN221809 2 172306382 172306429 TTAAAAGATACTTGAGCTGGGACACTCCTCAAGAAGTCATTGCAGTTA - 189113 deletion NM_025000.3(DCAF17):c.459-7_499del48 786205638 MedGen:CN221809 2 171449872 171449919 na na 205728 deletion NM_025000.3(DCAF17):c.436delC (p.Ala147Hisfs) 797045038 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286;MedGen:CN221809 2 171448795 171448795 C - 205728 deletion NM_025000.3(DCAF17):c.436delC (p.Ala147Hisfs) 797045038 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286;MedGen:CN221809 2 172305305 172305305 C - 209327 deletion NM_025000.3(DCAF17):c.270delA (p.Lys90Asnfs) 879253799 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172300072 172300072 A - 209327 deletion NM_025000.3(DCAF17):c.270delA (p.Lys90Asnfs) 879253799 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171443562 171443562 A - 213527 duplication NM_025000.3(DCAF17):c.289dupA (p.Ile97Asnfs) 863224865 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172300091 172300091 A AA 213527 duplication NM_025000.3(DCAF17):c.289dupA (p.Ile97Asnfs) 863224865 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171443581 171443581 A AA 246903 single nucleotide variant NM_025000.3(DCAF17):c.509A>G (p.Gln170Arg) 879255422 MedGen:CN169374 2 172306439 172306439 A G 246903 single nucleotide variant NM_025000.3(DCAF17):c.509A>G (p.Gln170Arg) 879255422 MedGen:CN169374 2 171449929 171449929 A G 271339 single nucleotide variant NC_000002.11:g.172305341C>T -1 MedGen:CN169374 2 172305341 172305341 C T 282811 single nucleotide variant NM_025000.3(DCAF17):c.-204C>T 147113116 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171434374 171434374 C T 282811 single nucleotide variant NM_025000.3(DCAF17):c.-204C>T 147113116 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172290884 172290884 C T 282818 single nucleotide variant NM_025000.3(DCAF17):c.127-15C>A 146556466 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171435068 171435068 C A 282818 single nucleotide variant NM_025000.3(DCAF17):c.127-15C>A 146556466 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172291578 172291578 C A 282830 single nucleotide variant NM_025000.3(DCAF17):c.214C>T (p.Arg72Trp) 886055106 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171435170 171435170 C T 282830 single nucleotide variant NM_025000.3(DCAF17):c.214C>T (p.Arg72Trp) 886055106 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172291680 172291680 C T 282831 single nucleotide variant NM_025000.3(DCAF17):c.1030T>C (p.Trp344Arg) 78488864 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172330424 172330424 T C 282831 single nucleotide variant NM_025000.3(DCAF17):c.1030T>C (p.Trp344Arg) 78488864 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171473914 171473914 T C 282833 single nucleotide variant NM_025000.3(DCAF17):c.*48A>T 753380867 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172337672 172337672 A T 282833 single nucleotide variant NM_025000.3(DCAF17):c.*48A>T 753380867 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171481162 171481162 A T 282834 single nucleotide variant NM_025000.3(DCAF17):c.*188T>A 142315519 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171481302 171481302 T A 282834 single nucleotide variant NM_025000.3(DCAF17):c.*188T>A 142315519 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172337812 172337812 T A 282838 duplication NM_025000.3(DCAF17):c.*1258dupT 886055110 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171482372 171482372 T TT 282838 duplication NM_025000.3(DCAF17):c.*1258dupT 886055110 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172338882 172338882 T TT 282841 deletion NM_025000.3(DCAF17):c.*1565delT 886055112 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171482679 171482679 T - 282841 deletion NM_025000.3(DCAF17):c.*1565delT 886055112 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172339189 172339189 T - 282843 single nucleotide variant NM_025000.3(DCAF17):c.*1747C>A 747014569 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171482861 171482861 C A 282843 single nucleotide variant NM_025000.3(DCAF17):c.*1747C>A 747014569 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172339371 172339371 C A 282844 single nucleotide variant NM_025000.3(DCAF17):c.*1841G>T 114519296 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171482955 171482955 G T 282844 single nucleotide variant NM_025000.3(DCAF17):c.*1841G>T 114519296 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172339465 172339465 G T 282846 single nucleotide variant NM_025000.3(DCAF17):c.*2312G>A 777311799 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171483426 171483426 G A 282846 single nucleotide variant NM_025000.3(DCAF17):c.*2312G>A 777311799 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172339936 172339936 G A 282851 single nucleotide variant NM_025000.3(DCAF17):c.*3703A>G 9789572 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171484817 171484817 A G 282851 single nucleotide variant NM_025000.3(DCAF17):c.*3703A>G 9789572 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172341327 172341327 A G 282859 single nucleotide variant NM_025000.3(DCAF17):c.*3705A>G 577520268 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171484819 171484819 A G 282859 single nucleotide variant NM_025000.3(DCAF17):c.*3705A>G 577520268 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172341329 172341329 A G 282861 single nucleotide variant NM_025000.3(DCAF17):c.*3880G>T 754667938 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171484994 171484994 G T 282861 single nucleotide variant NM_025000.3(DCAF17):c.*3880G>T 754667938 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172341504 172341504 G T 283624 single nucleotide variant NM_025000.3(DCAF17):c.-111G>T 80336595 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171434467 171434467 G T 283624 single nucleotide variant NM_025000.3(DCAF17):c.-111G>T 80336595 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172290977 172290977 G T 283626 single nucleotide variant NM_025000.3(DCAF17):c.533G>A (p.Arg178Gln) 202231211 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171449953 171449953 G A 283626 single nucleotide variant NM_025000.3(DCAF17):c.533G>A (p.Arg178Gln) 202231211 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172306463 172306463 G A 283628 single nucleotide variant NM_025000.3(DCAF17):c.579C>A (p.Phe193Leu) 150095386 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172309675 172309675 C A 283628 single nucleotide variant NM_025000.3(DCAF17):c.579C>A (p.Phe193Leu) 150095386 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171453165 171453165 C A 283630 single nucleotide variant NM_025000.3(DCAF17):c.792T>C (p.Thr264=) 199742600 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171458431 171458431 T C 283630 single nucleotide variant NM_025000.3(DCAF17):c.792T>C (p.Thr264=) 199742600 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172314941 172314941 T C 283632 single nucleotide variant NM_025000.3(DCAF17):c.*15T>C 146258833 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171481129 171481129 T C 283632 single nucleotide variant NM_025000.3(DCAF17):c.*15T>C 146258833 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172337639 172337639 T C 283635 single nucleotide variant NM_025000.3(DCAF17):c.*126A>T 139116642 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171481240 171481240 A T 283635 single nucleotide variant NM_025000.3(DCAF17):c.*126A>T 139116642 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172337750 172337750 A T 283636 single nucleotide variant NM_025000.3(DCAF17):c.*570G>A 3795998 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171481684 171481684 G A 283636 single nucleotide variant NM_025000.3(DCAF17):c.*570G>A 3795998 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172338194 172338194 G A 283637 single nucleotide variant NM_025000.3(DCAF17):c.*677C>A 115798465 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171481791 171481791 C A 283637 single nucleotide variant NM_025000.3(DCAF17):c.*677C>A 115798465 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172338301 172338301 C A 283648 single nucleotide variant NM_025000.3(DCAF17):c.*1165C>G 886055109 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172338789 172338789 C G 283648 single nucleotide variant NM_025000.3(DCAF17):c.*1165C>G 886055109 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171482279 171482279 C G 283654 deletion NM_025000.3(DCAF17):c.*1487_*1488delAG 886055111 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171482601 171482602 AG - 283654 deletion NM_025000.3(DCAF17):c.*1487_*1488delAG 886055111 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172339111 172339112 AG - 283655 single nucleotide variant NM_025000.3(DCAF17):c.*1531T>C 537066061 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171482645 171482645 T C 283655 single nucleotide variant NM_025000.3(DCAF17):c.*1531T>C 537066061 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172339155 172339155 T C 283663 single nucleotide variant NM_025000.3(DCAF17):c.*2348G>A 112519318 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172339972 172339972 G A 283663 single nucleotide variant NM_025000.3(DCAF17):c.*2348G>A 112519318 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171483462 171483462 G A 283665 single nucleotide variant NM_025000.3(DCAF17):c.*2425T>A 12151641 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172340049 172340049 T A 283665 single nucleotide variant NM_025000.3(DCAF17):c.*2425T>A 12151641 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171483539 171483539 T A 283666 single nucleotide variant NM_025000.3(DCAF17):c.*2971A>G 576169953 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171484085 171484085 A G 283666 single nucleotide variant NM_025000.3(DCAF17):c.*2971A>G 576169953 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172340595 172340595 A G 283672 single nucleotide variant NM_025000.3(DCAF17):c.*2976A>G 78561668 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171484090 171484090 A G 283672 single nucleotide variant NM_025000.3(DCAF17):c.*2976A>G 78561668 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172340600 172340600 A G 285150 single nucleotide variant NM_025000.3(DCAF17):c.-243C>G 886055102 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171434335 171434335 C G 285150 single nucleotide variant NM_025000.3(DCAF17):c.-243C>G 886055102 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172290845 172290845 C G 285154 single nucleotide variant NM_025000.3(DCAF17):c.-9C>G 886055105 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171434569 171434569 C G 285154 single nucleotide variant NM_025000.3(DCAF17):c.-9C>G 886055105 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172291079 172291079 C G 285156 single nucleotide variant NM_025000.3(DCAF17):c.137A>T (p.Lys46Ile) 375426959 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171435093 171435093 A T 285156 single nucleotide variant NM_025000.3(DCAF17):c.137A>T (p.Lys46Ile) 375426959 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172291603 172291603 A T 285161 single nucleotide variant NM_025000.3(DCAF17):c.184G>A (p.Glu62Lys) 201346228 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171435140 171435140 G A 285161 single nucleotide variant NM_025000.3(DCAF17):c.184G>A (p.Glu62Lys) 201346228 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172291650 172291650 G A 285168 single nucleotide variant NM_025000.3(DCAF17):c.913A>G (p.Ile305Val) 114419034 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171468962 171468962 A G 285168 single nucleotide variant NM_025000.3(DCAF17):c.913A>G (p.Ile305Val) 114419034 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172325472 172325472 A G 285170 single nucleotide variant NM_025000.3(DCAF17):c.1266+6G>A 557741620 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171478076 171478076 G A 285170 single nucleotide variant NM_025000.3(DCAF17):c.1266+6G>A 557741620 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172334586 172334586 G A 285171 single nucleotide variant NM_025000.3(DCAF17):c.1426T>C (p.Tyr476His) 142735693 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171480977 171480977 T C 285171 single nucleotide variant NM_025000.3(DCAF17):c.1426T>C (p.Tyr476His) 142735693 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172337487 172337487 T C 285172 single nucleotide variant NM_025000.3(DCAF17):c.*105A>G 551802113 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171481219 171481219 A G 285172 single nucleotide variant NM_025000.3(DCAF17):c.*105A>G 551802113 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172337729 172337729 A G 285175 single nucleotide variant NM_025000.3(DCAF17):c.*530A>G 115676571 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171481644 171481644 A G 285175 single nucleotide variant NM_025000.3(DCAF17):c.*530A>G 115676571 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172338154 172338154 A G 285176 single nucleotide variant NM_025000.3(DCAF17):c.*808T>A 886055108 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171481922 171481922 T A 285176 single nucleotide variant NM_025000.3(DCAF17):c.*808T>A 886055108 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172338432 172338432 T A 285183 single nucleotide variant NM_025000.3(DCAF17):c.*1005A>G 73976168 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171482119 171482119 A G 285183 single nucleotide variant NM_025000.3(DCAF17):c.*1005A>G 73976168 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172338629 172338629 A G 285189 single nucleotide variant NM_025000.3(DCAF17):c.*2183C>G 73976170 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171483297 171483297 C G 285189 single nucleotide variant NM_025000.3(DCAF17):c.*2183C>G 73976170 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172339807 172339807 C G 285190 single nucleotide variant NM_025000.3(DCAF17):c.*2340C>T 888428 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171483454 171483454 C T 285190 single nucleotide variant NM_025000.3(DCAF17):c.*2340C>T 888428 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172339964 172339964 C T 285201 single nucleotide variant NM_025000.3(DCAF17):c.*2380A>G 553179661 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172340004 172340004 A G 285201 single nucleotide variant NM_025000.3(DCAF17):c.*2380A>G 553179661 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171483494 171483494 A G 285202 single nucleotide variant NM_025000.3(DCAF17):c.*2429A>G 778932293 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172340053 172340053 A G 285202 single nucleotide variant NM_025000.3(DCAF17):c.*2429A>G 778932293 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171483543 171483543 A G 285203 single nucleotide variant NM_025000.3(DCAF17):c.*2747C>T 886055116 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172340371 172340371 C T 285203 single nucleotide variant NM_025000.3(DCAF17):c.*2747C>T 886055116 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171483861 171483861 C T 285657 single nucleotide variant NM_025000.3(DCAF17):c.-206C>G 886055103 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171434372 171434372 C G 285657 single nucleotide variant NM_025000.3(DCAF17):c.-206C>G 886055103 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172290882 172290882 C G 285658 single nucleotide variant NM_025000.3(DCAF17):c.-198T>C 886055104 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171434380 171434380 T C 285658 single nucleotide variant NM_025000.3(DCAF17):c.-198T>C 886055104 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172290890 172290890 T C 285659 single nucleotide variant NM_025000.3(DCAF17):c.230+15A>G 778241115 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171435201 171435201 A G 285659 single nucleotide variant NM_025000.3(DCAF17):c.230+15A>G 778241115 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172291711 172291711 A G 285660 single nucleotide variant NM_025000.3(DCAF17):c.1091+13A>G 886055107 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172330498 172330498 A G 285660 single nucleotide variant NM_025000.3(DCAF17):c.1091+13A>G 886055107 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171473988 171473988 A G 285662 single nucleotide variant NM_025000.3(DCAF17):c.*350G>A 3795996 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171481464 171481464 G A 285662 single nucleotide variant NM_025000.3(DCAF17):c.*350G>A 3795996 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172337974 172337974 G A 285663 single nucleotide variant NM_025000.3(DCAF17):c.*676T>G 3821084 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171481790 171481790 T G 285663 single nucleotide variant NM_025000.3(DCAF17):c.*676T>G 3821084 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172338300 172338300 T G 285664 single nucleotide variant NM_025000.3(DCAF17):c.*2066A>G 886055113 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171483180 171483180 A G 285664 single nucleotide variant NM_025000.3(DCAF17):c.*2066A>G 886055113 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172339690 172339690 A G 285675 single nucleotide variant NM_025000.3(DCAF17):c.*2202A>G 886055114 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171483316 171483316 A G 285675 single nucleotide variant NM_025000.3(DCAF17):c.*2202A>G 886055114 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172339826 172339826 A G 285707 single nucleotide variant NM_025000.3(DCAF17):c.*2292G>A 373833929 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171483406 171483406 G A 285707 single nucleotide variant NM_025000.3(DCAF17):c.*2292G>A 373833929 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172339916 172339916 G A 285709 single nucleotide variant NM_025000.3(DCAF17):c.*2473G>A 57999878 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172340097 172340097 G A 285709 single nucleotide variant NM_025000.3(DCAF17):c.*2473G>A 57999878 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171483587 171483587 G A 285712 single nucleotide variant NM_025000.3(DCAF17):c.*2623T>G 886055115 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172340247 172340247 T G 285712 single nucleotide variant NM_025000.3(DCAF17):c.*2623T>G 886055115 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171483737 171483737 T G 285732 single nucleotide variant NM_025000.3(DCAF17):c.*2775G>T 16859404 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172340399 172340399 G T 285732 single nucleotide variant NM_025000.3(DCAF17):c.*2775G>T 16859404 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171483889 171483889 G T 285733 single nucleotide variant NM_025000.3(DCAF17):c.*2795T>C 17221346 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171483909 171483909 T C 285733 single nucleotide variant NM_025000.3(DCAF17):c.*2795T>C 17221346 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172340419 172340419 T C 285734 duplication NM_025000.3(DCAF17):c.*2968_*2970dupTTC 886055117 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171484082 171484084 TTC TTCTTC 285734 duplication NM_025000.3(DCAF17):c.*2968_*2970dupTTC 886055117 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172340592 172340594 TTC TTCTTC 285741 deletion NM_025000.3(DCAF17):c.*3012_*3015delTTGT 886055118 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171484126 171484129 TTGT - 285741 deletion NM_025000.3(DCAF17):c.*3012_*3015delTTGT 886055118 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172340636 172340639 TTGT - 285742 single nucleotide variant NM_025000.3(DCAF17):c.*3112C>G 17221367 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171484226 171484226 C G 285742 single nucleotide variant NM_025000.3(DCAF17):c.*3112C>G 17221367 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172340736 172340736 C G 285754 single nucleotide variant NM_025000.3(DCAF17):c.*3453A>G 747674263 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171484567 171484567 A G 285754 single nucleotide variant NM_025000.3(DCAF17):c.*3453A>G 747674263 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172341077 172341077 A G 285756 single nucleotide variant NM_025000.3(DCAF17):c.*3712A>G 74780004 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171484826 171484826 A G 285756 single nucleotide variant NM_025000.3(DCAF17):c.*3712A>G 74780004 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172341336 172341336 A G 285757 single nucleotide variant NM_025000.3(DCAF17):c.*3829G>A 59827170 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171484943 171484943 G A 285757 single nucleotide variant NM_025000.3(DCAF17):c.*3829G>A 59827170 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172341453 172341453 G A 285758 single nucleotide variant NM_025000.3(DCAF17):c.*3835A>G 886055119 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 171484949 171484949 A G 285758 single nucleotide variant NM_025000.3(DCAF17):c.*3835A>G 886055119 MedGen:C0342286,OMIM:241080,Orphanet:ORPHA3464,SNOMED CT:C0342286 2 172341459 172341459 A G

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 2 172295794 rs10460358 A G rs10460358 8.18E-05 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 2 172325162 rs10515933 C T rs10515933 9.46E-04 Bipolar disorder HPOID:0007302 DOID:3312 G 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 rs10445762 2 172303555 172303555 ncRNA 0.726952 0.138494264276233

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000115827.13 DCAF17 612515