Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 15270 single nucleotide variant NM_182758.3(WDR72):c.2348C>G (p.Ser783Ter) 267607178 MedGen:C2750771,OMIM:613211 15 53908055 53908055 G C 15270 single nucleotide variant NM_182758.3(WDR72):c.2348C>G (p.Ser783Ter) 267607178 MedGen:C2750771,OMIM:613211 15 53615858 53615858 G C 15271 single nucleotide variant NM_182758.3(WDR72):c.2934G>A (p.Trp978Ter) 143816093 MedGen:C2750771,OMIM:613211 15 53901728 53901728 C T 15271 single nucleotide variant NM_182758.3(WDR72):c.2934G>A (p.Trp978Ter) 143816093 MedGen:C2750771,OMIM:613211 15 53609531 53609531 C T 15272 deletion NM_182758.3(WDR72):c.2857delA (p.Ser953Valfs) 606231351 MedGen:C2750771,OMIM:613211 15 53905878 53905878 T - 15272 deletion NM_182758.3(WDR72):c.2857delA (p.Ser953Valfs) 606231351 MedGen:C2750771,OMIM:613211 15 53613681 53613681 T - 155033 copy number loss GRCh38/hg38 15q21.3(chr15:53553175-53609466)x1 -1 - 15 53845372 53901663 na na 155033 copy number loss GRCh38/hg38 15q21.3(chr15:53553175-53609466)x1 -1 - 15 53553175 53609466 na na 155033 copy number loss GRCh38/hg38 15q21.3(chr15:53553175-53609466)x1 -1 - 15 51632664 51688955 na na 155580 copy number loss GRCh38/hg38 15q21.3(chr15:53553175-53673345)x1 -1 - 15 53845372 53965542 na na 155580 copy number loss GRCh38/hg38 15q21.3(chr15:53553175-53673345)x1 -1 - 15 53553175 53673345 na na 155580 copy number loss GRCh38/hg38 15q21.3(chr15:53553175-53673345)x1 -1 - 15 51632664 51752834 na na 171258 deletion NM_182758.3(WDR72):c.1467_1468delAT (p.Val491Aspfs) 606231462 MedGen:C2750771,OMIM:613211 15 53702235 53702236 AT - 171258 deletion NM_182758.3(WDR72):c.1467_1468delAT (p.Val491Aspfs) 606231462 MedGen:C2750771,OMIM:613211 15 53994432 53994433 AT - 255299 single nucleotide variant NM_182758.3(WDR72):c.2455C>T (p.Leu819Phe) 17730281 MedGen:CN239209;MedGen:CN169374 15 53615751 53615751 G A 255299 single nucleotide variant NM_182758.3(WDR72):c.2455C>T (p.Leu819Phe) 17730281 MedGen:CN239209;MedGen:CN169374 15 53907948 53907948 G A 255300 single nucleotide variant NM_182758.3(WDR72):c.1407T>C (p.Tyr469=) 6416452 MedGen:CN239209;MedGen:CN169374 15 53702296 53702296 A G 255300 single nucleotide variant NM_182758.3(WDR72):c.1407T>C (p.Tyr469=) 6416452 MedGen:CN239209;MedGen:CN169374 15 53994493 53994493 A G 255301 single nucleotide variant NM_182758.3(WDR72):c.917C>T (p.Pro306Leu) 551225 MedGen:CN239209;MedGen:CN169374 15 54003091 54003091 G A 255301 single nucleotide variant NM_182758.3(WDR72):c.917C>T (p.Pro306Leu) 551225 MedGen:CN239209;MedGen:CN169374 15 53710894 53710894 G A 255302 single nucleotide variant NM_182758.3(WDR72):c.339+9A>G 690337 MedGen:CN239209;MedGen:CN169374 15 53716598 53716598 T C 255302 single nucleotide variant NM_182758.3(WDR72):c.339+9A>G 690337 MedGen:CN239209;MedGen:CN169374 15 54008795 54008795 T C 255303 single nucleotide variant NM_182758.3(WDR72):c.298A>G (p.Met100Val) 690346 MedGen:CN239209;MedGen:CN169374 15 53716648 53716648 T C 255303 single nucleotide variant NM_182758.3(WDR72):c.298A>G (p.Met100Val) 690346 MedGen:CN239209;MedGen:CN169374 15 54008845 54008845 T C 255304 deletion NM_182758.3(WDR72):c.261-8delT 34828731 MedGen:CN239209;MedGen:CN169374 15 53716693 53716693 A - 255304 deletion NM_182758.3(WDR72):c.261-8delT 34828731 MedGen:CN239209;MedGen:CN169374 15 54008890 54008890 A - 322861 single nucleotide variant NM_182758.3(WDR72):c.*3689A>G 74871423 MedGen:CN239209 15 53806207 53806207 T C 322861 single nucleotide variant NM_182758.3(WDR72):c.*3689A>G 74871423 MedGen:CN239209 15 53514010 53514010 T C 322863 single nucleotide variant NM_182758.3(WDR72):c.*3650A>G 886051278 MedGen:CN239209 15 53806246 53806246 T C 322863 single nucleotide variant NM_182758.3(WDR72):c.*3650A>G 886051278 MedGen:CN239209 15 53514049 53514049 T C 322864 single nucleotide variant NM_182758.3(WDR72):c.*3594A>C 886051279 MedGen:CN239209 15 53806302 53806302 T G 322864 single nucleotide variant NM_182758.3(WDR72):c.*3594A>C 886051279 MedGen:CN239209 15 53514105 53514105 T G 322866 single nucleotide variant NM_182758.3(WDR72):c.*3575T>C 193055203 MedGen:CN239209 15 53806321 53806321 A G 322866 single nucleotide variant NM_182758.3(WDR72):c.*3575T>C 193055203 MedGen:CN239209 15 53514124 53514124 A G 322867 single nucleotide variant NM_182758.3(WDR72):c.*3514G>T 185236656 MedGen:CN239209 15 53806382 53806382 C A 322867 single nucleotide variant NM_182758.3(WDR72):c.*3514G>T 185236656 MedGen:CN239209 15 53514185 53514185 C A 322868 single nucleotide variant NM_182758.3(WDR72):c.*3470C>T 886051280 MedGen:CN239209 15 53514229 53514229 G A 322868 single nucleotide variant NM_182758.3(WDR72):c.*3470C>T 886051280 MedGen:CN239209 15 53806426 53806426 G A 322874 single nucleotide variant NM_182758.3(WDR72):c.*3433G>A 13329257 MedGen:CN239209 15 53514266 53514266 C T 322874 single nucleotide variant NM_182758.3(WDR72):c.*3433G>A 13329257 MedGen:CN239209 15 53806463 53806463 C T 322878 duplication NM_182758.3(WDR72):c.*2739_*2742dupCTTT 886051282 MedGen:CN239209 15 53514957 53514960 AAAG AAAGAAAG 322878 duplication NM_182758.3(WDR72):c.*2739_*2742dupCTTT 886051282 MedGen:CN239209 15 53807154 53807157 AAAG AAAGAAAG 322883 duplication NM_182758.3(WDR72):c.*2685_*2690dupATATAT 767886982 MedGen:CN239209 15 53515009 53515014 ATATAT ATATATATATAT 322883 duplication NM_182758.3(WDR72):c.*2685_*2690dupATATAT 767886982 MedGen:CN239209 15 53807206 53807211 ATATAT ATATATATATAT 322884 duplication NM_182758.3(WDR72):c.*2683_*2690dupATATATAT 767886982 MedGen:CN239209 15 53515009 53515016 ATATATAT ATATATATATATATAT 322884 duplication NM_182758.3(WDR72):c.*2683_*2690dupATATATAT 767886982 MedGen:CN239209 15 53807206 53807213 ATATATAT ATATATATATATATAT 322886 single nucleotide variant NM_182758.3(WDR72):c.*2675A>G 181220553 MedGen:CN239209 15 53515024 53515024 T C 322886 single nucleotide variant NM_182758.3(WDR72):c.*2675A>G 181220553 MedGen:CN239209 15 53807221 53807221 T C 322889 single nucleotide variant NM_182758.3(WDR72):c.*2673G>A 7175439 MedGen:CN239209 15 53515026 53515026 C T 322889 single nucleotide variant NM_182758.3(WDR72):c.*2673G>A 7175439 MedGen:CN239209 15 53807223 53807223 C T 322895 insertion NM_182758.3(WDR72):c.*2657_*2658insTACACATATATATGTGTGTATATATATACACACATATATATA 886051284 MedGen:CN239209 15 53515041 53515042 - TATATATATGTGTGTATATATATACACACATATATATGTGTA 322895 insertion NM_182758.3(WDR72):c.*2657_*2658insTACACATATATATGTGTGTATATATATACACACATATATATA 886051284 MedGen:CN239209 15 53807238 53807239 - TATATATATGTGTGTATATATATACACACATATATATGTGTA 322898 duplication NM_182758.3(WDR72):c.*2656_*2657dupTA 778784142 MedGen:CN239209 15 53515042 53515043 TA TATA 322898 duplication NM_182758.3(WDR72):c.*2656_*2657dupTA 778784142 MedGen:CN239209 15 53807239 53807240 TA TATA 322902 single nucleotide variant NM_182758.3(WDR72):c.*2644C>T 796396291 MedGen:CN239209 15 53515055 53515055 G A 322902 single nucleotide variant NM_182758.3(WDR72):c.*2644C>T 796396291 MedGen:CN239209 15 53807252 53807252 G A 322904 single nucleotide variant NM_182758.3(WDR72):c.*2622T>C 886051286 MedGen:CN239209 15 53515077 53515077 A G 322904 single nucleotide variant NM_182758.3(WDR72):c.*2622T>C 886051286 MedGen:CN239209 15 53807274 53807274 A G 322909 duplication NM_182758.3(WDR72):c.*2603_*2612dupGTGTGTGTGT 34023014 MedGen:CN239209 15 53515087 53515096 ACACACACAC ACACACACACACACACACAC 322909 duplication NM_182758.3(WDR72):c.*2603_*2612dupGTGTGTGTGT 34023014 MedGen:CN239209 15 53807284 53807293 ACACACACAC ACACACACACACACACACAC 322910 insertion NM_182758.3(WDR72):c.*2592_*2593insTTGT 5812689 MedGen:CN239209 15 53807303 53807304 - ACAA 322910 insertion NM_182758.3(WDR72):c.*2592_*2593insTTGT 5812689 MedGen:CN239209 15 53515106 53515107 - ACAA 322915 insertion NM_182758.3(WDR72):c.*2592_*2593insTTTTGT 5812689 MedGen:CN239209 15 53807303 53807304 - ACAAAA 322915 insertion NM_182758.3(WDR72):c.*2592_*2593insTTTTGT 5812689 MedGen:CN239209 15 53515106 53515107 - ACAAAA 322917 duplication NM_182758.3(WDR72):c.*2591_*2592dupTT 5812689 MedGen:CN239209 15 53807304 53807305 AA AAAA 322917 duplication NM_182758.3(WDR72):c.*2591_*2592dupTT 5812689 MedGen:CN239209 15 53515107 53515108 AA AAAA 322920 single nucleotide variant NM_182758.3(WDR72):c.*2497G>A 4633660 MedGen:CN239209 15 53515202 53515202 C T 322920 single nucleotide variant NM_182758.3(WDR72):c.*2497G>A 4633660 MedGen:CN239209 15 53807399 53807399 C T 322921 single nucleotide variant NM_182758.3(WDR72):c.*1940A>T 886051291 MedGen:CN239209 15 53515759 53515759 T A 322921 single nucleotide variant NM_182758.3(WDR72):c.*1940A>T 886051291 MedGen:CN239209 15 53807956 53807956 T A 322923 single nucleotide variant NM_182758.3(WDR72):c.*1764T>G 576208075 MedGen:CN239209 15 53515935 53515935 A C 322923 single nucleotide variant NM_182758.3(WDR72):c.*1764T>G 576208075 MedGen:CN239209 15 53808132 53808132 A C 322924 single nucleotide variant NM_182758.3(WDR72):c.*1734T>C 72745124 MedGen:CN239209 15 53515965 53515965 A G 322924 single nucleotide variant NM_182758.3(WDR72):c.*1734T>C 72745124 MedGen:CN239209 15 53808162 53808162 A G 322926 single nucleotide variant NM_182758.3(WDR72):c.*1527A>G 543611189 MedGen:CN239209 15 53516172 53516172 T C 322926 single nucleotide variant NM_182758.3(WDR72):c.*1527A>G 543611189 MedGen:CN239209 15 53808369 53808369 T C 322927 single nucleotide variant NM_182758.3(WDR72):c.*1470T>C 886051294 MedGen:CN239209 15 53516229 53516229 A G 322927 single nucleotide variant NM_182758.3(WDR72):c.*1470T>C 886051294 MedGen:CN239209 15 53808426 53808426 A G 322928 single nucleotide variant NM_182758.3(WDR72):c.*1145T>G 74015392 MedGen:CN239209 15 53516554 53516554 A C 322928 single nucleotide variant NM_182758.3(WDR72):c.*1145T>G 74015392 MedGen:CN239209 15 53808751 53808751 A C 322932 single nucleotide variant NM_182758.3(WDR72):c.*572C>G 16966157 MedGen:CN239209 15 53517127 53517127 G C 322932 single nucleotide variant NM_182758.3(WDR72):c.*572C>G 16966157 MedGen:CN239209 15 53809324 53809324 G C 322936 single nucleotide variant NM_182758.3(WDR72):c.3254-7T>G 17630660 MedGen:CN239209 15 53809958 53809958 A C 322936 single nucleotide variant NM_182758.3(WDR72):c.3254-7T>G 17630660 MedGen:CN239209 15 53517761 53517761 A C 322937 duplication NM_182758.3(WDR72):c.3149-10_3149-9dupCT 139512794 MedGen:CN239209 15 53523331 53523332 AG AGAG 322937 duplication NM_182758.3(WDR72):c.3149-10_3149-9dupCT 139512794 MedGen:CN239209 15 53815528 53815529 AG AGAG 322938 duplication NM_182758.3(WDR72):c.3149-12_3149-9dupCTCT 139512794 MedGen:CN239209 15 53523331 53523334 AGAG AGAGAGAG 322938 duplication NM_182758.3(WDR72):c.3149-12_3149-9dupCTCT 139512794 MedGen:CN239209 15 53815528 53815531 AGAG AGAGAGAG 322942 single nucleotide variant NM_182758.3(WDR72):c.2724A>G (p.Leu908=) 16966318 MedGen:CN239209 15 53615482 53615482 T C 322942 single nucleotide variant NM_182758.3(WDR72):c.2724A>G (p.Leu908=) 16966318 MedGen:CN239209 15 53907679 53907679 T C 322945 single nucleotide variant NM_182758.3(WDR72):c.2598A>G (p.Lys866=) 115484883 MedGen:CN239209 15 53615608 53615608 T C 322945 single nucleotide variant NM_182758.3(WDR72):c.2598A>G (p.Lys866=) 115484883 MedGen:CN239209 15 53907805 53907805 T C 322946 single nucleotide variant NM_182758.3(WDR72):c.1918G>C (p.Gly640Arg) 886051298 MedGen:CN239209 15 53665616 53665616 C G 322946 single nucleotide variant NM_182758.3(WDR72):c.1918G>C (p.Gly640Arg) 886051298 MedGen:CN239209 15 53957813 53957813 C G 322958 single nucleotide variant NM_182758.3(WDR72):c.1659C>T (p.Ala553=) 886051299 MedGen:CN239209 15 53699856 53699856 G A 322958 single nucleotide variant NM_182758.3(WDR72):c.1659C>T (p.Ala553=) 886051299 MedGen:CN239209 15 53992053 53992053 G A 322959 single nucleotide variant NM_182758.3(WDR72):c.1574G>A (p.Arg525Lys) 777274290 MedGen:CN239209 15 53699941 53699941 C T 322959 single nucleotide variant NM_182758.3(WDR72):c.1574G>A (p.Arg525Lys) 777274290 MedGen:CN239209 15 53992138 53992138 C T 322963 single nucleotide variant NM_182758.3(WDR72):c.1195A>C (p.Lys399Gln) 35258188 MedGen:CN239209 15 53705141 53705141 T G 322963 single nucleotide variant NM_182758.3(WDR72):c.1195A>C (p.Lys399Gln) 35258188 MedGen:CN239209 15 53997338 53997338 T G 322970 single nucleotide variant NM_182758.3(WDR72):c.1111G>T (p.Val371Leu) 200333070 MedGen:CN239209 15 53997422 53997422 C A 322970 single nucleotide variant NM_182758.3(WDR72):c.1111G>T (p.Val371Leu) 200333070 MedGen:CN239209 15 53705225 53705225 C A 322975 single nucleotide variant NM_182758.3(WDR72):c.408C>T (p.Val136=) 886051303 MedGen:CN239209 15 53715299 53715299 G A 322975 single nucleotide variant NM_182758.3(WDR72):c.408C>T (p.Val136=) 886051303 MedGen:CN239209 15 54007496 54007496 G A 332378 single nucleotide variant NM_182758.3(WDR72):c.*3936G>A 6493630 MedGen:CN239209 15 53513763 53513763 C T 332378 single nucleotide variant NM_182758.3(WDR72):c.*3936G>A 6493630 MedGen:CN239209 15 53805960 53805960 C T 332379 single nucleotide variant NM_182758.3(WDR72):c.*3734A>G 371978233 MedGen:CN239209 15 53806162 53806162 T C 332379 single nucleotide variant NM_182758.3(WDR72):c.*3734A>G 371978233 MedGen:CN239209 15 53513965 53513965 T C 332385 single nucleotide variant NM_182758.3(WDR72):c.*3423A>C 74015386 MedGen:CN239209 15 53514276 53514276 T G 332385 single nucleotide variant NM_182758.3(WDR72):c.*3423A>C 74015386 MedGen:CN239209 15 53806473 53806473 T G 332386 single nucleotide variant NM_182758.3(WDR72):c.*3126T>C 372563214 MedGen:CN239209 15 53514573 53514573 A G 332386 single nucleotide variant NM_182758.3(WDR72):c.*3126T>C 372563214 MedGen:CN239209 15 53806770 53806770 A G 332391 single nucleotide variant NM_182758.3(WDR72):c.*3114A>G 72745122 MedGen:CN239209 15 53514585 53514585 T C 332391 single nucleotide variant NM_182758.3(WDR72):c.*3114A>G 72745122 MedGen:CN239209 15 53806782 53806782 T C 332393 single nucleotide variant NM_182758.3(WDR72):c.*2955A>G 879270279 MedGen:CN239209 15 53514744 53514744 T C 332393 single nucleotide variant NM_182758.3(WDR72):c.*2955A>G 879270279 MedGen:CN239209 15 53806941 53806941 T C 332398 single nucleotide variant NM_182758.3(WDR72):c.*2785G>A 531740269 MedGen:CN239209 15 53514914 53514914 C T 332398 single nucleotide variant NM_182758.3(WDR72):c.*2785G>A 531740269 MedGen:CN239209 15 53807111 53807111 C T 332412 insertion NM_182758.3(WDR72):c.*2676_*2677insGT 886051283 MedGen:CN239209 15 53515022 53515023 - AC 332412 insertion NM_182758.3(WDR72):c.*2676_*2677insGT 886051283 MedGen:CN239209 15 53807219 53807220 - AC 332420 insertion NM_182758.3(WDR72):c.*2674_*2675insGTATAT 138789015 MedGen:CN239209 15 53515024 53515025 - ATATAC 332420 insertion NM_182758.3(WDR72):c.*2674_*2675insGTATAT 138789015 MedGen:CN239209 15 53807221 53807222 - ATATAC 332421 single nucleotide variant NM_182758.3(WDR72):c.*2667A>G 201198446 MedGen:CN239209 15 53515032 53515032 T C 332421 single nucleotide variant NM_182758.3(WDR72):c.*2667A>G 201198446 MedGen:CN239209 15 53807229 53807229 T C 332426 single nucleotide variant NM_182758.3(WDR72):c.*2616C>T 116990736 MedGen:CN239209 15 53515083 53515083 G A 332426 single nucleotide variant NM_182758.3(WDR72):c.*2616C>T 116990736 MedGen:CN239209 15 53807280 53807280 G A 332427 insertion NM_182758.3(WDR72):c.*2613_*2614insCACACATA 886051287 MedGen:CN239209 15 53515085 53515086 - TATGTGTG 332427 insertion NM_182758.3(WDR72):c.*2613_*2614insCACACATA 886051287 MedGen:CN239209 15 53807282 53807283 - TATGTGTG 332429 insertion NM_182758.3(WDR72):c.*2611_*2612insCACACA 886051288 MedGen:CN239209 15 53515087 53515088 - TGTGTG 332429 insertion NM_182758.3(WDR72):c.*2611_*2612insCACACA 886051288 MedGen:CN239209 15 53807284 53807285 - TGTGTG 332435 single nucleotide variant NM_182758.3(WDR72):c.*2593G>T 28620845 MedGen:CN239209 15 53515106 53515106 C A 332435 single nucleotide variant NM_182758.3(WDR72):c.*2593G>T 28620845 MedGen:CN239209 15 53807303 53807303 C A 332446 insertion NM_182758.3(WDR72):c.*2592_*2593insTTGTGTGT 5812689 MedGen:CN239209 15 53807303 53807304 - ACACACAA 332446 insertion NM_182758.3(WDR72):c.*2592_*2593insTTGTGTGT 5812689 MedGen:CN239209 15 53515106 53515107 - ACACACAA 332447 insertion NM_182758.3(WDR72):c.*2592_*2593insTTGTGTGTGT 5812689 MedGen:CN239209 15 53807303 53807304 - ACACACACAA 332447 insertion NM_182758.3(WDR72):c.*2592_*2593insTTGTGTGTGT 5812689 MedGen:CN239209 15 53515106 53515107 - ACACACACAA 332450 single nucleotide variant NM_182758.3(WDR72):c.*2360C>T 886051290 MedGen:CN239209 15 53515339 53515339 G A 332450 single nucleotide variant NM_182758.3(WDR72):c.*2360C>T 886051290 MedGen:CN239209 15 53807536 53807536 G A 332454 single nucleotide variant NM_182758.3(WDR72):c.*2050C>A 561453499 MedGen:CN239209 15 53515649 53515649 G T 332454 single nucleotide variant NM_182758.3(WDR72):c.*2050C>A 561453499 MedGen:CN239209 15 53807846 53807846 G T 332461 single nucleotide variant NM_182758.3(WDR72):c.*1932T>G 7180991 MedGen:CN239209 15 53515767 53515767 A C 332461 single nucleotide variant NM_182758.3(WDR72):c.*1932T>G 7180991 MedGen:CN239209 15 53807964 53807964 A C 332464 single nucleotide variant NM_182758.3(WDR72):c.*1739G>A 8041208 MedGen:CN239209 15 53515960 53515960 C T 332464 single nucleotide variant NM_182758.3(WDR72):c.*1739G>A 8041208 MedGen:CN239209 15 53808157 53808157 C T 332468 single nucleotide variant NM_182758.3(WDR72):c.*1533C>T 7182198 MedGen:CN239209 15 53516166 53516166 G A 332468 single nucleotide variant NM_182758.3(WDR72):c.*1533C>T 7182198 MedGen:CN239209 15 53808363 53808363 G A 332471 single nucleotide variant NM_182758.3(WDR72):c.*1099G>C 547196239 MedGen:CN239209 15 53516600 53516600 C G 332471 single nucleotide variant NM_182758.3(WDR72):c.*1099G>C 547196239 MedGen:CN239209 15 53808797 53808797 C G 332477 single nucleotide variant NM_182758.3(WDR72):c.*913G>C 188922992 MedGen:CN239209 15 53516786 53516786 C G 332477 single nucleotide variant NM_182758.3(WDR72):c.*913G>C 188922992 MedGen:CN239209 15 53808983 53808983 C G 332479 single nucleotide variant NM_182758.3(WDR72):c.*588G>A 140879069 MedGen:CN239209 15 53517111 53517111 C T 332479 single nucleotide variant NM_182758.3(WDR72):c.*588G>A 140879069 MedGen:CN239209 15 53809308 53809308 C T 332480 single nucleotide variant NM_182758.3(WDR72):c.*499G>T 74015396 MedGen:CN239209 15 53517200 53517200 C A 332480 single nucleotide variant NM_182758.3(WDR72):c.*499G>T 74015396 MedGen:CN239209 15 53809397 53809397 C A 332485 deletion NM_182758.3(WDR72):c.*452_*456delATTTG 796948790 MedGen:CN239209 15 53517243 53517247 CAAAT - 332485 deletion NM_182758.3(WDR72):c.*452_*456delATTTG 796948790 MedGen:CN239209 15 53809440 53809444 CAAAT - 332487 deletion NM_182758.3(WDR72):c.*260delC 536038929 MedGen:CN239209 15 53517439 53517439 G - 332487 deletion NM_182758.3(WDR72):c.*260delC 536038929 MedGen:CN239209 15 53809636 53809636 G - 332489 single nucleotide variant NM_182758.3(WDR72):c.*179A>G 886051297 MedGen:CN239209 15 53517520 53517520 T C 332489 single nucleotide variant NM_182758.3(WDR72):c.*179A>G 886051297 MedGen:CN239209 15 53809717 53809717 T C 332501 single nucleotide variant NM_182758.3(WDR72):c.*33C>T 145549474 MedGen:CN239209 15 53809863 53809863 G A 332501 single nucleotide variant NM_182758.3(WDR72):c.*33C>T 145549474 MedGen:CN239209 15 53517666 53517666 G A 332507 single nucleotide variant NM_182758.3(WDR72):c.3162G>A (p.Pro1054=) 143842578 MedGen:CN239209 15 53815506 53815506 C T 332507 single nucleotide variant NM_182758.3(WDR72):c.3162G>A (p.Pro1054=) 143842578 MedGen:CN239209 15 53523309 53523309 C T 332513 single nucleotide variant NM_182758.3(WDR72):c.2741T>C (p.Leu914Ser) 146698292 MedGen:CN239209 15 53615465 53615465 A G 332513 single nucleotide variant NM_182758.3(WDR72):c.2741T>C (p.Leu914Ser) 146698292 MedGen:CN239209 15 53907662 53907662 A G 332514 single nucleotide variant NM_182758.3(WDR72):c.2707T>G (p.Tyr903Asp) 750256834 MedGen:CN239209 15 53615499 53615499 A C 332514 single nucleotide variant NM_182758.3(WDR72):c.2707T>G (p.Tyr903Asp) 750256834 MedGen:CN239209 15 53907696 53907696 A C 332515 single nucleotide variant NM_182758.3(WDR72):c.1839G>A (p.Val613=) 78493456 MedGen:CN239209 15 53665695 53665695 C T 332515 single nucleotide variant NM_182758.3(WDR72):c.1839G>A (p.Val613=) 78493456 MedGen:CN239209 15 53957892 53957892 C T 332516 single nucleotide variant NM_182758.3(WDR72):c.1207G>A (p.Gly403Arg) 886051301 MedGen:CN239209 15 53705129 53705129 C T 332516 single nucleotide variant NM_182758.3(WDR72):c.1207G>A (p.Gly403Arg) 886051301 MedGen:CN239209 15 53997326 53997326 C T 332525 single nucleotide variant NM_182758.3(WDR72):c.-7G>A 496290 MedGen:CN239209 15 53733156 53733156 C T 332525 single nucleotide variant NM_182758.3(WDR72):c.-7G>A 496290 MedGen:CN239209 15 54025353 54025353 C T 339375 single nucleotide variant NM_182758.3(WDR72):c.*3742G>C 79708164 MedGen:CN239209 15 53513957 53513957 C G 339375 single nucleotide variant NM_182758.3(WDR72):c.*3742G>C 79708164 MedGen:CN239209 15 53806154 53806154 C G 339377 single nucleotide variant NM_182758.3(WDR72):c.*2849G>T 189694115 MedGen:CN239209 15 53514850 53514850 C A 339377 single nucleotide variant NM_182758.3(WDR72):c.*2849G>T 189694115 MedGen:CN239209 15 53807047 53807047 C A 339378 single nucleotide variant NM_182758.3(WDR72):c.*2808G>T 7175105 MedGen:CN239209 15 53514891 53514891 C A 339378 single nucleotide variant NM_182758.3(WDR72):c.*2808G>T 7175105 MedGen:CN239209 15 53807088 53807088 C A 339381 duplication NM_182758.3(WDR72):c.*2687_*2690dupATAT 767886982 MedGen:CN239209 15 53515009 53515012 ATAT ATATATAT 339381 duplication NM_182758.3(WDR72):c.*2687_*2690dupATAT 767886982 MedGen:CN239209 15 53807206 53807209 ATAT ATATATAT 339383 duplication NM_182758.3(WDR72):c.*2607_*2612dupGTGTGT 34023014 MedGen:CN239209 15 53515087 53515092 ACACAC ACACACACACAC 339383 duplication NM_182758.3(WDR72):c.*2607_*2612dupGTGTGT 34023014 MedGen:CN239209 15 53807284 53807289 ACACAC ACACACACACAC 339384 duplication NM_182758.3(WDR72):c.*2605_*2612dupGTGTGTGT 34023014 MedGen:CN239209 15 53515087 53515094 ACACACAC ACACACACACACACAC 339384 duplication NM_182758.3(WDR72):c.*2605_*2612dupGTGTGTGT 34023014 MedGen:CN239209 15 53807284 53807291 ACACACAC ACACACACACACACAC 339396 insertion NM_182758.3(WDR72):c.*2592_*2593insTTGTGT 5812689 MedGen:CN239209 15 53807303 53807304 - ACACAA 339396 insertion NM_182758.3(WDR72):c.*2592_*2593insTTGTGT 5812689 MedGen:CN239209 15 53515106 53515107 - ACACAA 339405 single nucleotide variant NM_182758.3(WDR72):c.*2356C>T 3088091 MedGen:CN239209 15 53515343 53515343 G A 339405 single nucleotide variant NM_182758.3(WDR72):c.*2356C>T 3088091 MedGen:CN239209 15 53807540 53807540 G A 339412 single nucleotide variant NM_182758.3(WDR72):c.*1936A>G 148744855 MedGen:CN239209 15 53515763 53515763 T C 339412 single nucleotide variant NM_182758.3(WDR72):c.*1936A>G 148744855 MedGen:CN239209 15 53807960 53807960 T C 339419 single nucleotide variant NM_182758.3(WDR72):c.*1664G>T 10518724 MedGen:CN239209 15 53516035 53516035 C A 339419 single nucleotide variant NM_182758.3(WDR72):c.*1664G>T 10518724 MedGen:CN239209 15 53808232 53808232 C A 339420 single nucleotide variant NM_182758.3(WDR72):c.*1583T>C 886051292 MedGen:CN239209 15 53516116 53516116 A G 339420 single nucleotide variant NM_182758.3(WDR72):c.*1583T>C 886051292 MedGen:CN239209 15 53808313 53808313 A G 339438 single nucleotide variant NM_182758.3(WDR72):c.*1577G>C 886051293 MedGen:CN239209 15 53516122 53516122 C G 339438 single nucleotide variant NM_182758.3(WDR72):c.*1577G>C 886051293 MedGen:CN239209 15 53808319 53808319 C G 339439 single nucleotide variant NM_182758.3(WDR72):c.*1509G>C 776180210 MedGen:CN239209 15 53516190 53516190 C G 339439 single nucleotide variant NM_182758.3(WDR72):c.*1509G>C 776180210 MedGen:CN239209 15 53808387 53808387 C G 339441 single nucleotide variant NM_182758.3(WDR72):c.*1006A>G 758330355 MedGen:CN239209 15 53516693 53516693 T C 339441 single nucleotide variant NM_182758.3(WDR72):c.*1006A>G 758330355 MedGen:CN239209 15 53808890 53808890 T C 339443 single nucleotide variant NM_182758.3(WDR72):c.*993T>A 78118351 MedGen:CN239209 15 53516706 53516706 A T 339443 single nucleotide variant NM_182758.3(WDR72):c.*993T>A 78118351 MedGen:CN239209 15 53808903 53808903 A T 339453 single nucleotide variant NM_182758.3(WDR72):c.*96T>C 149722292 MedGen:CN239209 15 53517603 53517603 A G 339453 single nucleotide variant NM_182758.3(WDR72):c.*96T>C 149722292 MedGen:CN239209 15 53809800 53809800 A G 339457 single nucleotide variant NM_182758.3(WDR72):c.3253+3G>A 369105806 MedGen:CN239209 15 53815412 53815412 C T 339457 single nucleotide variant NM_182758.3(WDR72):c.3253+3G>A 369105806 MedGen:CN239209 15 53523215 53523215 C T 339460 duplication NM_182758.3(WDR72):c.3149-14_3149-9dupCTCTCT 139512794 MedGen:CN239209 15 53523331 53523336 AGAGAG AGAGAGAGAGAG 339460 duplication NM_182758.3(WDR72):c.3149-14_3149-9dupCTCTCT 139512794 MedGen:CN239209 15 53815528 53815533 AGAGAG AGAGAGAGAGAG 339467 single nucleotide variant NM_182758.3(WDR72):c.2694A>G (p.Ser898=) 114363728 MedGen:CN239209 15 53615512 53615512 T C 339467 single nucleotide variant NM_182758.3(WDR72):c.2694A>G (p.Ser898=) 114363728 MedGen:CN239209 15 53907709 53907709 T C 339476 single nucleotide variant NM_182758.3(WDR72):c.2497T>G (p.Ser833Ala) 16966320 MedGen:CN239209 15 53615709 53615709 A C 339476 single nucleotide variant NM_182758.3(WDR72):c.2497T>G (p.Ser833Ala) 16966320 MedGen:CN239209 15 53907906 53907906 A C 339479 single nucleotide variant NM_182758.3(WDR72):c.2341A>G (p.Lys781Glu) 60404950 MedGen:CN239209 15 53615865 53615865 T C 339479 single nucleotide variant NM_182758.3(WDR72):c.2341A>G (p.Lys781Glu) 60404950 MedGen:CN239209 15 53908062 53908062 T C 339480 single nucleotide variant NM_182758.3(WDR72):c.1569+7C>T 138465897 MedGen:CN239209 15 53702127 53702127 G A 339480 single nucleotide variant NM_182758.3(WDR72):c.1569+7C>T 138465897 MedGen:CN239209 15 53994324 53994324 G A 340805 single nucleotide variant NM_182758.3(WDR72):c.*3852T>G 886051277 MedGen:CN239209 15 53513847 53513847 A C 340805 single nucleotide variant NM_182758.3(WDR72):c.*3852T>G 886051277 MedGen:CN239209 15 53806044 53806044 A C 340807 single nucleotide variant NM_182758.3(WDR72):c.*3511A>G 143131142 MedGen:CN239209 15 53514188 53514188 T C 340807 single nucleotide variant NM_182758.3(WDR72):c.*3511A>G 143131142 MedGen:CN239209 15 53806385 53806385 T C 340813 single nucleotide variant NM_182758.3(WDR72):c.*3164T>C 143400580 MedGen:CN239209 15 53514535 53514535 A G 340813 single nucleotide variant NM_182758.3(WDR72):c.*3164T>C 143400580 MedGen:CN239209 15 53806732 53806732 A G 340823 single nucleotide variant NM_182758.3(WDR72):c.*2919T>G 886051281 MedGen:CN239209 15 53514780 53514780 A C 340823 single nucleotide variant NM_182758.3(WDR72):c.*2919T>G 886051281 MedGen:CN239209 15 53806977 53806977 A C 340831 duplication NM_182758.3(WDR72):c.*2689_*2690dupAT 767886982 MedGen:CN239209 15 53515009 53515010 AT ATAT 340831 duplication NM_182758.3(WDR72):c.*2689_*2690dupAT 767886982 MedGen:CN239209 15 53807206 53807207 AT ATAT 340834 single nucleotide variant NM_182758.3(WDR72):c.*2633G>A 886051285 MedGen:CN239209 15 53515066 53515066 C T 340834 single nucleotide variant NM_182758.3(WDR72):c.*2633G>A 886051285 MedGen:CN239209 15 53807263 53807263 C T 340836 duplication NM_182758.3(WDR72):c.*2611_*2612dupGT 34023014 MedGen:CN239209 15 53515087 53515088 AC ACAC 340836 duplication NM_182758.3(WDR72):c.*2611_*2612dupGT 34023014 MedGen:CN239209 15 53807284 53807285 AC ACAC 340840 duplication NM_182758.3(WDR72):c.*2609_*2612dupGTGT 34023014 MedGen:CN239209 15 53515087 53515090 ACAC ACACACAC 340840 duplication NM_182758.3(WDR72):c.*2609_*2612dupGTGT 34023014 MedGen:CN239209 15 53807284 53807287 ACAC ACACACAC 340841 insertion NM_182758.3(WDR72):c.*2608_*2609insATAT 886051289 MedGen:CN239209 15 53515090 53515091 - ATAT 340841 insertion NM_182758.3(WDR72):c.*2608_*2609insATAT 886051289 MedGen:CN239209 15 53807287 53807288 - ATAT 340845 single nucleotide variant NM_182758.3(WDR72):c.*2504T>G 776855982 MedGen:CN239209 15 53515195 53515195 A C 340845 single nucleotide variant NM_182758.3(WDR72):c.*2504T>G 776855982 MedGen:CN239209 15 53807392 53807392 A C 340846 single nucleotide variant NM_182758.3(WDR72):c.*1898G>A 7181293 MedGen:CN239209 15 53515801 53515801 C T 340846 single nucleotide variant NM_182758.3(WDR72):c.*1898G>A 7181293 MedGen:CN239209 15 53807998 53807998 C T 340857 single nucleotide variant NM_182758.3(WDR72):c.*1478A>T 76317515 MedGen:CN239209 15 53516221 53516221 T A 340857 single nucleotide variant NM_182758.3(WDR72):c.*1478A>T 76317515 MedGen:CN239209 15 53808418 53808418 T A 340864 single nucleotide variant NM_182758.3(WDR72):c.*1325T>C 758752529 MedGen:CN239209 15 53516374 53516374 A G 340864 single nucleotide variant NM_182758.3(WDR72):c.*1325T>C 758752529 MedGen:CN239209 15 53808571 53808571 A G 340866 single nucleotide variant NM_182758.3(WDR72):c.*1279G>C 3206108 MedGen:CN239209 15 53516420 53516420 C G 340866 single nucleotide variant NM_182758.3(WDR72):c.*1279G>C 3206108 MedGen:CN239209 15 53808617 53808617 C G 340876 single nucleotide variant NM_182758.3(WDR72):c.*1218T>A 115655160 MedGen:CN239209 15 53808678 53808678 A T 340876 single nucleotide variant NM_182758.3(WDR72):c.*1218T>A 115655160 MedGen:CN239209 15 53516481 53516481 A T 340877 single nucleotide variant NM_182758.3(WDR72):c.*1183G>A 886051295 MedGen:CN239209 15 53516516 53516516 C T 340877 single nucleotide variant NM_182758.3(WDR72):c.*1183G>A 886051295 MedGen:CN239209 15 53808713 53808713 C T 340881 single nucleotide variant NM_182758.3(WDR72):c.*1175G>T 572496420 MedGen:CN239209 15 53516524 53516524 C A 340881 single nucleotide variant NM_182758.3(WDR72):c.*1175G>T 572496420 MedGen:CN239209 15 53808721 53808721 C A 340888 single nucleotide variant NM_182758.3(WDR72):c.*1054C>T 8026294 MedGen:CN239209 15 53516645 53516645 G A 340888 single nucleotide variant NM_182758.3(WDR72):c.*1054C>T 8026294 MedGen:CN239209 15 53808842 53808842 G A 340889 single nucleotide variant NM_182758.3(WDR72):c.*898A>G 886051296 MedGen:CN239209 15 53516801 53516801 T C 340889 single nucleotide variant NM_182758.3(WDR72):c.*898A>G 886051296 MedGen:CN239209 15 53808998 53808998 T C 340892 deletion NM_182758.3(WDR72):c.3149-10_3149-9delCT 112552047 MedGen:CN239209 15 53815528 53815529 AG - 340892 deletion NM_182758.3(WDR72):c.3149-10_3149-9delCT 112552047 MedGen:CN239209 15 53523331 53523332 AG - 340893 single nucleotide variant NM_182758.3(WDR72):c.1437A>C (p.Gln479His) 34123953 MedGen:CN239209 15 53702266 53702266 T G 340893 single nucleotide variant NM_182758.3(WDR72):c.1437A>C (p.Gln479His) 34123953 MedGen:CN239209 15 53994463 53994463 T G 340894 single nucleotide variant NM_182758.3(WDR72):c.1394C>G (p.Thr465Ser) 886051300 MedGen:CN239209 15 53702309 53702309 G C 340894 single nucleotide variant NM_182758.3(WDR72):c.1394C>G (p.Thr465Ser) 886051300 MedGen:CN239209 15 53994506 53994506 G C 340898 single nucleotide variant NM_182758.3(WDR72):c.942G>T (p.Val314=) 12905755 MedGen:CN239209 15 53710869 53710869 C A 340898 single nucleotide variant NM_182758.3(WDR72):c.942G>T (p.Val314=) 12905755 MedGen:CN239209 15 54003066 54003066 C A 340899 single nucleotide variant NM_182758.3(WDR72):c.766C>G (p.Gln256Glu) 886051302 MedGen:CN239209 15 53711427 53711427 G C 340899 single nucleotide variant NM_182758.3(WDR72):c.766C>G (p.Gln256Glu) 886051302 MedGen:CN239209 15 54003624 54003624 G C 340900 single nucleotide variant NM_182758.3(WDR72):c.409C>G (p.Leu137Val) 140484726 MedGen:CN239209 15 53715298 53715298 G C 340900 single nucleotide variant NM_182758.3(WDR72):c.409C>G (p.Leu137Val) 140484726 MedGen:CN239209 15 54007495 54007495 G C 340915 single nucleotide variant NM_182758.3(WDR72):c.99G>T (p.Val33=) 144767107 MedGen:CN239209 15 53733051 53733051 C A 340915 single nucleotide variant NM_182758.3(WDR72):c.99G>T (p.Val33=) 144767107 MedGen:CN239209 15 54025248 54025248 C A 340916 single nucleotide variant NM_182758.3(WDR72):c.93G>C (p.Thr31=) 148643501 MedGen:CN239209 15 53733057 53733057 C G 340916 single nucleotide variant NM_182758.3(WDR72):c.93G>C (p.Thr31=) 148643501 MedGen:CN239209 15 54025254 54025254 C 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 15 53807964 rs7180991 A C rs7180991 8.33E-05 CISPLATIN|CARBOPLATIN NAG PROTEIN, HUMAN|ORGANOPLATINUM COMPOUNDS|NEOPLASM PROTEINS Cisplatin and carboplatin cytotoxicity, in blood cell lines HPOID:0100526|HPOID:0012288|HPOID:0010788 DOID:9256|DOID:11934|DOID:2998|DOID:1324 C UTR-3 GWASdb_drug 15 53808232 rs10518724 C A rs10518724 8.30E-05 CISPLATIN|CARBOPLATIN NAG PROTEIN, HUMAN|ORGANOPLATINUM COMPOUNDS|NEOPLASM PROTEINS Cisplatin and carboplatin cytotoxicity, in blood cell lines HPOID:0100526|HPOID:0012288|HPOID:0010788 DOID:9256|DOID:11934|DOID:2998|DOID:1324 C UTR-3 GWASdb_drug 15 53809324 rs16966157 G C rs16966157 8.33E-05 CISPLATIN|CARBOPLATIN NAG PROTEIN, HUMAN|ORGANOPLATINUM COMPOUNDS|NEOPLASM PROTEINS Cisplatin and carboplatin cytotoxicity, in blood cell lines HPOID:0100526|HPOID:0012288|HPOID:0010788 DOID:9256|DOID:11934|DOID:2998|DOID:1324 G UTR-3 GWASdb_drug 15 53812704 rs574376 G A rs574376 8.31E-05 CISPLATIN|CARBOPLATIN NAG PROTEIN, HUMAN|ORGANOPLATINUM COMPOUNDS|NEOPLASM PROTEINS Cisplatin and carboplatin cytotoxicity, in blood cell lines HPOID:0100526|HPOID:0012288|HPOID:0010788 DOID:9256|DOID:11934|DOID:2998|DOID:1324 A intron GWASdb_drug 15 53907948 rs17730281 G A rs17730281 3.00E-11 URIC ACID CREATININE Renal function-related traits (BUN) HPOID:0000077 DOID:557 G missense GWASdb_drug 15 53940307 rs10518733 A C rs10518733 1.74E-08 URIC ACID BIOLOGICAL MARKERS Blood cell counts and other traits HPOID:0011873|HPOID:0011902|HPOID:0004352|HPOID:0004297|HPOID:0004348|HPOID:0100767|HPOID:0001909|HPOID:0002665|HPOID:0010876|HPOID:0003138|HPOID:0000077|HPOID:0003107 DOID:74|DOID:526|DOID:5844 A intron GWASdb_drug 15 53940307 rs10518733 A C rs10518733 2.00E-08 URIC ACID BIOLOGICAL MARKERS Blood cell counts and other traits HPOID:0011873|HPOID:0011902|HPOID:0004352|HPOID:0004297|HPOID:0004348|HPOID:0100767|HPOID:0001909|HPOID:0002665|HPOID:0010876|HPOID:0003138|HPOID:0000077|HPOID:0003107 DOID:74|DOID:526|DOID:5844 A intron GWASdb_drug 15 53942928 rs17730436 T C rs17730436 1.00E-13 URIC ACID CREATININE Renal function-related traits (sCR) HPOID:0000077 DOID:557 T intron GWASdb_drug 15 53942928 rs17730436 T C rs17730436 6.00E-13 URIC ACID CREATININE Renal function-related traits (eGRFcrea) HPOID:0000077 DOID:557 T intron GWASdb_drug 15 53805825 rs7168365 C A rs7168365 1.00E-06 Longevity HPOID:0000118 NA C nearGene-3 GWASdb_trait 15 53807964 rs7180991 A C rs7180991 8.33E-05 Cisplatin and carboplatin cytotoxicity, in blood cell lines HPOID:0100526|HPOID:0012288|HPOID:0010788 DOID:9256|DOID:11934|DOID:2998|DOID:1324 C UTR-3 GWASdb_trait 15 53808232 rs10518724 C A rs10518724 8.30E-05 Cisplatin and carboplatin cytotoxicity, in blood cell lines HPOID:0100526|HPOID:0012288|HPOID:0010788 DOID:9256|DOID:11934|DOID:2998|DOID:1324 C UTR-3 GWASdb_trait 15 53809324 rs16966157 G C rs16966157 8.33E-05 Cisplatin and carboplatin cytotoxicity, in blood cell lines HPOID:0100526|HPOID:0012288|HPOID:0010788 DOID:9256|DOID:11934|DOID:2998|DOID:1324 G UTR-3 GWASdb_trait 15 53812704 rs574376 G A rs574376 8.31E-05 Cisplatin and carboplatin cytotoxicity, in blood cell lines HPOID:0100526|HPOID:0012288|HPOID:0010788 DOID:9256|DOID:11934|DOID:2998|DOID:1324 A intron GWASdb_trait 15 53815752 rs10518725 G A rs10518725 2.07E-04 Longevity HPOID:0000118 NA G intron GWASdb_trait 15 53815752 rs10518725 G A rs10518725 1.85E-08 Metabolite levels HPOID:0001939 DOID:655 G intron GWASdb_trait 15 53816808 rs562025 G C rs562025 4.33E-05 Bilirubin levels, in serum HPOID:0002904 DOID:2741 C intron GWASdb_trait 15 53841476 rs10220757 T C rs10220757 8.19E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 15 53844711 rs17549027 A T rs17549027 5.98E-08 Metabolite levels HPOID:0001939 DOID:655 A intron GWASdb_trait 15 53844864 rs17630899 G C rs17630899 5.98E-08 Metabolite levels HPOID:0001939 DOID:655 G intron GWASdb_trait 15 53845601 rs11853370 G A rs11853370 5.98E-08 Metabolite levels HPOID:0001939 DOID:655 G intron GWASdb_trait 15 53858438 rs1906429 C T rs1906429 1.50E-05 Urinary metabolites HPOID:0000079 DOID:557 T intron GWASdb_trait 15 53866692 rs11635835 G A rs11635835 7.77E-05 Serum metabolites HPOID:0011111 NA G intron GWASdb_trait 15 53879241 rs9672398 T G rs9672398 8.44E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 15 53879543 rs4448885 T C rs4448885 8.70E-05 Cognitive function HPOID:0100543 DOID:1561 C intron GWASdb_trait 15 53881945 rs16966247 G C rs16966247 2.00E-04 Chronic kidney disease HPOID:0000077 DOID:784 G intron GWASdb_trait 15 53890362 rs4332691 C T rs4332691 2.75E-04 Stroke HPOID:0001297 DOID:6713 C intron GWASdb_trait 15 53892200 rs2899517 T G rs2899517 5.71E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 15 53907948 rs17730281 G A rs17730281 3.00E-11 Renal function-related traits (BUN) HPOID:0000077 DOID:557 G missense GWASdb_trait 15 53926729 rs11858440 A G rs11858440 2.30E-05 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait 15 53929524 rs16966341 G A rs16966341 3.93E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 15 53935071 rs2926881 G T rs2926881 7.15E-04 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 15 53940307 rs10518733 A C rs10518733 1.74E-08 Blood cell counts and other traits HPOID:0011873|HPOID:0011902|HPOID:0004352|HPOID:0004297|HPOID:0004348|HPOID:0100767|HPOID:0001909|HPOID:0002665|HPOID:0010876|HPOID:0003138|HPOID:0000077|HPOID:0003107 DOID:74|DOID:526|DOID:5844 A intron GWASdb_trait 15 53940307 rs10518733 A C rs10518733 2.00E-08 Blood cell counts and other traits HPOID:0011873|HPOID:0011902|HPOID:0004352|HPOID:0004297|HPOID:0004348|HPOID:0100767|HPOID:0001909|HPOID:0002665|HPOID:0010876|HPOID:0003138|HPOID:0000077|HPOID:0003107 DOID:74|DOID:526|DOID:5844 A intron GWASdb_trait 15 53942928 rs17730436 T C rs17730436 1.00E-13 Renal function-related traits (sCR) HPOID:0000077 DOID:557 T intron GWASdb_trait 15 53942928 rs17730436 T C rs17730436 6.00E-13 Renal function-related traits (eGRFcrea) HPOID:0000077 DOID:557 T intron GWASdb_trait 15 53946593 rs491567 A C rs491567 3.00E-13 Chronic kidney disease HPOID:0000077 DOID:784 G intron GWASdb_trait 15 53946593 rs491567 A C rs491567 3.54E-11 Chronic kidney disease HPOID:0000077 DOID:784 G intron GWASdb_trait 15 53964746 rs3911726 G A rs3911726 2.40E-05 Urinary metabolites HPOID:0000079 DOID:557 G intron GWASdb_trait 15 53972484 rs572528 A G rs572528 2.20E-05 Cognitive function HPOID:0100543 DOID:1561 G intron GWASdb_trait 15 53994126 rs17663138 G A rs17663138 2.49E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 15 54003091 rs551225 G A rs551225 2.00E-04 Information processing speed HPOID:0100753|HPOID:0000716 DOID:1561 C missense GWASdb_trait 15 54008795 rs690337 T C rs690337 3.77E-04 Alzheimer's disease HPOID:0002511 DOID:10652 C intron GWASdb_trait 15 54028917 rs690487 T A,G rs690487 5.75E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 15 54029475 rs689654 C T rs689654 1.79E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000166415.14 WDR72 613214