Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 16619 single nucleotide variant NM_139281.2(WDR36):c.1973A>G (p.Asp658Gly) 34595252 MedGen:C1835933,OMIM:609887;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573;MedGen:CN169374 5 110454719 110454719 A G 16619 single nucleotide variant NM_139281.2(WDR36):c.1973A>G (p.Asp658Gly) 34595252 MedGen:C1835933,OMIM:609887;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573;MedGen:CN169374 5 111119021 111119021 A G 16620 single nucleotide variant NM_139281.2(WDR36):c.1064A>G (p.Asn355Ser) 118204022 MedGen:C1835933,OMIM:609887 5 110440041 110440041 A G 16620 single nucleotide variant NM_139281.2(WDR36):c.1064A>G (p.Asn355Ser) 118204022 MedGen:C1835933,OMIM:609887 5 111104342 111104342 A G 16621 single nucleotide variant NM_139281.2(WDR36):c.1345G>A (p.Ala449Thr) 35703638 MedGen:C1835933,OMIM:609887;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110441839 110441839 G A 16621 single nucleotide variant NM_139281.2(WDR36):c.1345G>A (p.Ala449Thr) 35703638 MedGen:C1835933,OMIM:609887;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111106140 111106140 G A 16622 single nucleotide variant NM_139281.2(WDR36):c.1586G>A (p.Arg529Gln) 116529882 MedGen:C1835933,OMIM:609887;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110445979 110445979 G A 16622 single nucleotide variant NM_139281.2(WDR36):c.1586G>A (p.Arg529Gln) 116529882 MedGen:C1835933,OMIM:609887;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111110280 111110280 G A 251608 single nucleotide variant NM_139281.2(WDR36):c.99C>G (p.Asp33Glu) 35629723 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573;MedGen:CN169374 5 111092387 111092387 C G 251608 single nucleotide variant NM_139281.2(WDR36):c.99C>G (p.Asp33Glu) 35629723 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573;MedGen:CN169374 5 110428085 110428085 C G 251609 single nucleotide variant NM_139281.2(WDR36):c.790A>G (p.Ile264Val) 11241095 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573;MedGen:CN169374 5 111103810 111103810 A G 251609 single nucleotide variant NM_139281.2(WDR36):c.790A>G (p.Ile264Val) 11241095 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573;MedGen:CN169374 5 110439509 110439509 A G 251610 single nucleotide variant NM_139281.2(WDR36):c.2181A>T (p.Val727=) 13186912 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573;MedGen:CN169374 5 111121006 111121006 A T 251610 single nucleotide variant NM_139281.2(WDR36):c.2181A>T (p.Val727=) 13186912 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573;MedGen:CN169374 5 110456704 110456704 A T 294835 duplication NM_139281.2(WDR36):c.331-7dupT 886059761 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111094913 111094913 T TT 294835 duplication NM_139281.2(WDR36):c.331-7dupT 886059761 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110430611 110430611 T TT 294837 single nucleotide variant NM_139281.2(WDR36):c.402C>T (p.Gly134=) 148990528 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111097122 111097122 C T 294837 single nucleotide variant NM_139281.2(WDR36):c.402C>T (p.Gly134=) 148990528 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110432820 110432820 C T 294842 single nucleotide variant NM_139281.2(WDR36):c.423T>C (p.Tyr141=) 17132775 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111097143 111097143 T C 294842 single nucleotide variant NM_139281.2(WDR36):c.423T>C (p.Tyr141=) 17132775 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110432841 110432841 T C 294844 single nucleotide variant NM_139281.2(WDR36):c.540T>A (p.Thr180=) 770526235 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111098802 111098802 T A 294844 single nucleotide variant NM_139281.2(WDR36):c.540T>A (p.Thr180=) 770526235 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110434500 110434500 T A 294848 single nucleotide variant NM_139281.2(WDR36):c.1569G>A (p.Met523Ile) 375798656 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110445962 110445962 G A 294848 single nucleotide variant NM_139281.2(WDR36):c.1569G>A (p.Met523Ile) 375798656 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111110263 111110263 G A 294853 single nucleotide variant NM_139281.2(WDR36):c.1642G>A (p.Asp548Asn) 146298769 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110446519 110446519 G A 294853 single nucleotide variant NM_139281.2(WDR36):c.1642G>A (p.Asp548Asn) 146298769 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111110820 111110820 G A 294854 single nucleotide variant NM_139281.2(WDR36):c.*45C>G 11952807 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111126928 111126928 C G 294854 single nucleotide variant NM_139281.2(WDR36):c.*45C>G 11952807 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110462626 110462626 C G 294860 single nucleotide variant NM_139281.2(WDR36):c.*120A>G 79289431 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111127003 111127003 A G 294860 single nucleotide variant NM_139281.2(WDR36):c.*120A>G 79289431 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110462701 110462701 A G 294867 single nucleotide variant NM_139281.2(WDR36):c.*413T>C 566884664 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111127296 111127296 T C 294867 single nucleotide variant NM_139281.2(WDR36):c.*413T>C 566884664 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110462994 110462994 T C 294869 single nucleotide variant NM_139281.2(WDR36):c.*857A>G 114769038 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111127740 111127740 A G 294869 single nucleotide variant NM_139281.2(WDR36):c.*857A>G 114769038 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110463438 110463438 A G 294873 duplication NM_139281.2(WDR36):c.*1080dupG 886059772 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110463661 110463661 G GG 294873 duplication NM_139281.2(WDR36):c.*1080dupG 886059772 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111127963 111127963 G GG 294879 single nucleotide variant NM_139281.2(WDR36):c.*1448G>A 181871045 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111128331 111128331 G A 294879 single nucleotide variant NM_139281.2(WDR36):c.*1448G>A 181871045 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110464029 110464029 G A 294880 single nucleotide variant NM_139281.2(WDR36):c.*1741C>T 11954534 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111128624 111128624 C T 294880 single nucleotide variant NM_139281.2(WDR36):c.*1741C>T 11954534 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110464322 110464322 C T 294885 single nucleotide variant NM_139281.2(WDR36):c.*1775A>G 886059776 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111128658 111128658 A G 294885 single nucleotide variant NM_139281.2(WDR36):c.*1775A>G 886059776 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110464356 110464356 A G 294892 single nucleotide variant NM_139281.2(WDR36):c.*2576G>C 114702659 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111129459 111129459 G C 294892 single nucleotide variant NM_139281.2(WDR36):c.*2576G>C 114702659 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110465157 110465157 G C 294893 single nucleotide variant NM_139281.2(WDR36):c.*2636A>T 145768538 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111129519 111129519 A T 294893 single nucleotide variant NM_139281.2(WDR36):c.*2636A>T 145768538 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110465217 110465217 A T 294896 single nucleotide variant NM_139281.2(WDR36):c.*2669A>T 770321734 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111129552 111129552 A T 294896 single nucleotide variant NM_139281.2(WDR36):c.*2669A>T 770321734 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110465250 110465250 A T 294897 single nucleotide variant NM_139281.2(WDR36):c.*2746A>G 528818741 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111129629 111129629 A G 294897 single nucleotide variant NM_139281.2(WDR36):c.*2746A>G 528818741 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110465327 110465327 A G 296548 single nucleotide variant NM_139281.2(WDR36):c.-114C>A 886059760 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111092175 111092175 C A 296548 single nucleotide variant NM_139281.2(WDR36):c.-114C>A 886059760 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110427873 110427873 C A 296553 single nucleotide variant NM_139281.2(WDR36):c.-50C>T 202090632 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111092239 111092239 C T 296553 single nucleotide variant NM_139281.2(WDR36):c.-50C>T 202090632 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110427937 110427937 C T 296554 single nucleotide variant NM_139281.2(WDR36):c.51G>A (p.Pro17=) 148831021 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111092339 111092339 G A 296554 single nucleotide variant NM_139281.2(WDR36):c.51G>A (p.Pro17=) 148831021 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110428037 110428037 G A 296555 single nucleotide variant NM_139281.2(WDR36):c.91C>A (p.Pro31Thr) 148041801 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111092379 111092379 C A 296555 single nucleotide variant NM_139281.2(WDR36):c.91C>A (p.Pro31Thr) 148041801 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110428077 110428077 C A 296556 single nucleotide variant NM_139281.2(WDR36):c.358+12C>G 144126376 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111094959 111094959 C G 296556 single nucleotide variant NM_139281.2(WDR36):c.358+12C>G 144126376 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110430657 110430657 C G 296557 single nucleotide variant NM_139281.2(WDR36):c.376G>A (p.Asp126Asn) 115541547 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111097096 111097096 G A 296557 single nucleotide variant NM_139281.2(WDR36):c.376G>A (p.Asp126Asn) 115541547 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110432794 110432794 G A 296577 single nucleotide variant NM_139281.2(WDR36):c.635A>C (p.His212Pro) 142088179 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111100646 111100646 A C 296577 single nucleotide variant NM_139281.2(WDR36):c.635A>C (p.His212Pro) 142088179 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110436345 110436345 A C 296578 single nucleotide variant NM_139281.2(WDR36):c.712A>G (p.Lys238Glu) 762142269 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111102346 111102346 A G 296578 single nucleotide variant NM_139281.2(WDR36):c.712A>G (p.Lys238Glu) 762142269 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110438045 110438045 A G 296579 single nucleotide variant NM_139281.2(WDR36):c.1692A>G (p.Lys564=) 377765180 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110446569 110446569 A G 296579 single nucleotide variant NM_139281.2(WDR36):c.1692A>G (p.Lys564=) 377765180 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111110870 111110870 A G 296583 single nucleotide variant NM_139281.2(WDR36):c.1868G>A (p.Gly623Asp) 543026736 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110446961 110446961 G A 296583 single nucleotide variant NM_139281.2(WDR36):c.1868G>A (p.Gly623Asp) 543026736 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111111262 111111262 G A 296586 indel NM_139281.2(WDR36):c.1885-20_1885-14delTTTTTTTinsATATATATA 886059764 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111113054 111113060 TTTTTTT ATATATATA 296586 indel NM_139281.2(WDR36):c.1885-20_1885-14delTTTTTTTinsATATATATA 886059764 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110448753 110448759 TTTTTTT ATATATATA 296588 single nucleotide variant NM_139281.2(WDR36):c.1967T>G (p.Leu656Arg) 375389793 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111119015 111119015 T G 296588 single nucleotide variant NM_139281.2(WDR36):c.1967T>G (p.Leu656Arg) 375389793 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110454713 110454713 T G 296601 single nucleotide variant NM_139281.2(WDR36):c.2142C>G (p.Val714=) 17624563 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111120565 111120565 C G 296601 single nucleotide variant NM_139281.2(WDR36):c.2142C>G (p.Val714=) 17624563 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110456263 110456263 C G 296604 single nucleotide variant NM_139281.2(WDR36):c.2232A>G (p.Pro744=) 201288071 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111121057 111121057 A G 296604 single nucleotide variant NM_139281.2(WDR36):c.2232A>G (p.Pro744=) 201288071 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110456755 110456755 A G 296605 duplication NM_139281.2(WDR36):c.2706+8_2706+11dupTAAT 886059766 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111125803 111125806 TAAT TAATTAAT 296605 duplication NM_139281.2(WDR36):c.2706+8_2706+11dupTAAT 886059766 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110461501 110461504 TAAT TAATTAAT 296606 single nucleotide variant NM_139281.2(WDR36):c.*83A>T 139818247 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111126966 111126966 A T 296606 single nucleotide variant NM_139281.2(WDR36):c.*83A>T 139818247 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110462664 110462664 A T 296609 single nucleotide variant NM_139281.2(WDR36):c.*500G>T 568614520 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111127383 111127383 G T 296609 single nucleotide variant NM_139281.2(WDR36):c.*500G>T 568614520 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110463081 110463081 G T 296610 single nucleotide variant NM_139281.2(WDR36):c.*502C>T 188780911 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111127385 111127385 C T 296610 single nucleotide variant NM_139281.2(WDR36):c.*502C>T 188780911 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110463083 110463083 C T 296613 single nucleotide variant NM_139281.2(WDR36):c.*871T>C 886059768 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111127754 111127754 T C 296613 single nucleotide variant NM_139281.2(WDR36):c.*871T>C 886059768 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110463452 110463452 T C 296614 deletion NM_139281.2(WDR36):c.*1040_*1050delGTTTTTTTTTT 532039350 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110463621 110463631 GTTTTTTTTTT - 296614 deletion NM_139281.2(WDR36):c.*1040_*1050delGTTTTTTTTTT 532039350 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111127923 111127933 GTTTTTTTTTT - 296617 single nucleotide variant NM_139281.2(WDR36):c.*1104G>A 147620363 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110463685 110463685 G A 296617 single nucleotide variant NM_139281.2(WDR36):c.*1104G>A 147620363 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111127987 111127987 G A 296623 single nucleotide variant NM_139281.2(WDR36):c.*1131T>C 886059773 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111128014 111128014 T C 296623 single nucleotide variant NM_139281.2(WDR36):c.*1131T>C 886059773 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110463712 110463712 T C 296625 single nucleotide variant NM_139281.2(WDR36):c.*1340G>A 188323981 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111128223 111128223 G A 296625 single nucleotide variant NM_139281.2(WDR36):c.*1340G>A 188323981 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110463921 110463921 G A 296630 single nucleotide variant NM_139281.2(WDR36):c.*1434T>C 559306601 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111128317 111128317 T C 296630 single nucleotide variant NM_139281.2(WDR36):c.*1434T>C 559306601 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110464015 110464015 T C 296646 single nucleotide variant NM_139281.2(WDR36):c.*1559G>C 149151603 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111128442 111128442 G C 296646 single nucleotide variant NM_139281.2(WDR36):c.*1559G>C 149151603 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110464140 110464140 G C 296647 single nucleotide variant NM_139281.2(WDR36):c.*1836T>C 886059777 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111128719 111128719 T C 296647 single nucleotide variant NM_139281.2(WDR36):c.*1836T>C 886059777 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110464417 110464417 T C 296648 single nucleotide variant NM_139281.2(WDR36):c.*1918A>G 886059778 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111128801 111128801 A G 296648 single nucleotide variant NM_139281.2(WDR36):c.*1918A>G 886059778 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110464499 110464499 A G 296660 single nucleotide variant NM_139281.2(WDR36):c.*2340C>G 886059781 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111129223 111129223 C G 296660 single nucleotide variant NM_139281.2(WDR36):c.*2340C>G 886059781 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110464921 110464921 C G 296661 single nucleotide variant NM_139281.2(WDR36):c.*2585C>A 886059782 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111129468 111129468 C A 296661 single nucleotide variant NM_139281.2(WDR36):c.*2585C>A 886059782 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110465166 110465166 C A 296676 single nucleotide variant NM_139281.2(WDR36):c.*2644A>G 886059785 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111129527 111129527 A G 296676 single nucleotide variant NM_139281.2(WDR36):c.*2644A>G 886059785 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110465225 110465225 A G 296677 deletion NM_139281.2(WDR36):c.*2644delA 886059784 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111129527 111129527 A - 296677 deletion NM_139281.2(WDR36):c.*2644delA 886059784 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110465225 110465225 A - 296693 single nucleotide variant NM_139281.2(WDR36):c.*2883A>T 886059786 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111129766 111129766 A T 296693 single nucleotide variant NM_139281.2(WDR36):c.*2883A>T 886059786 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110465464 110465464 A T 296694 single nucleotide variant NM_139281.2(WDR36):c.*3125C>G 886059788 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111130008 111130008 C G 296694 single nucleotide variant NM_139281.2(WDR36):c.*3125C>G 886059788 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110465706 110465706 C G 296696 duplication NM_139281.2(WDR36):c.*3592_*3593dupAT 886059791 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110466173 110466174 AT ATAT 296696 duplication NM_139281.2(WDR36):c.*3592_*3593dupAT 886059791 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111130475 111130476 AT ATAT 300252 single nucleotide variant NM_139281.2(WDR36):c.74T>C (p.Leu25Pro) 145437203 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111092362 111092362 T C 300252 single nucleotide variant NM_139281.2(WDR36):c.74T>C (p.Leu25Pro) 145437203 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110428060 110428060 T C 300253 single nucleotide variant NM_139281.2(WDR36):c.308G>A (p.Gly103Asp) 140690485 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111092596 111092596 G A 300253 single nucleotide variant NM_139281.2(WDR36):c.308G>A (p.Gly103Asp) 140690485 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110428294 110428294 G A 300265 single nucleotide variant NM_139281.2(WDR36):c.851A>G (p.Lys284Arg) 372900947 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111103871 111103871 A G 300265 single nucleotide variant NM_139281.2(WDR36):c.851A>G (p.Lys284Arg) 372900947 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110439570 110439570 A G 300269 single nucleotide variant NM_139281.2(WDR36):c.911T>C (p.Val304Ala) 886059762 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111104189 111104189 T C 300269 single nucleotide variant NM_139281.2(WDR36):c.911T>C (p.Val304Ala) 886059762 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110439888 110439888 T C 300270 single nucleotide variant NM_139281.2(WDR36):c.1057G>T (p.Ala353Ser) 142687756 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110440034 110440034 G T 300270 single nucleotide variant NM_139281.2(WDR36):c.1057G>T (p.Ala353Ser) 142687756 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111104335 111104335 G T 300278 indel NM_139281.2(WDR36):c.1885-20_1885-14delTTTTTTTinsATATATATATA 886059764 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111113054 111113060 TTTTTTT ATATATATATA 300278 indel NM_139281.2(WDR36):c.1885-20_1885-14delTTTTTTTinsATATATATATA 886059764 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110448753 110448759 TTTTTTT ATATATATATA 300279 deletion NM_139281.2(WDR36):c.1885-11_1885-10delTT 886059763 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111113063 111113064 TT - 300279 deletion NM_139281.2(WDR36):c.1885-11_1885-10delTT 886059763 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110448762 110448763 TT - 300280 single nucleotide variant NM_139281.2(WDR36):c.1923G>A (p.Ala641=) 144806510 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111113112 111113112 G A 300280 single nucleotide variant NM_139281.2(WDR36):c.1923G>A (p.Ala641=) 144806510 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110448811 110448811 G A 300287 single nucleotide variant NM_139281.2(WDR36):c.-84G>A 749165368 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111092205 111092205 G A 300287 single nucleotide variant NM_139281.2(WDR36):c.-84G>A 749165368 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110427903 110427903 G A 300289 single nucleotide variant NM_139281.2(WDR36):c.300C>T (p.Thr100=) 199548073 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111092588 111092588 C T 300289 single nucleotide variant NM_139281.2(WDR36):c.300C>T (p.Thr100=) 199548073 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110428286 110428286 C T 300291 single nucleotide variant NM_139281.2(WDR36):c.1963T>G (p.Cys655Gly) 147964188 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111113152 111113152 T G 300291 single nucleotide variant NM_139281.2(WDR36):c.1963T>G (p.Cys655Gly) 147964188 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110448851 110448851 T G 300293 single nucleotide variant NM_139281.2(WDR36):c.488C>T (p.Ala163Val) 62376783 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111098750 111098750 C T 300293 single nucleotide variant NM_139281.2(WDR36):c.488C>T (p.Ala163Val) 62376783 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110434448 110434448 C T 300295 single nucleotide variant NM_139281.2(WDR36):c.591G>A (p.Gln197=) 137855986 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111100602 111100602 G A 300295 single nucleotide variant NM_139281.2(WDR36):c.591G>A (p.Gln197=) 137855986 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110436301 110436301 G A 300296 single nucleotide variant NM_139281.2(WDR36):c.636T>C (p.His212=) 145835374 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111100647 111100647 T C 300296 single nucleotide variant NM_139281.2(WDR36):c.636T>C (p.His212=) 145835374 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110436346 110436346 T C 300297 single nucleotide variant NM_139281.2(WDR36):c.1610-7C>T 772432901 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110446480 110446480 C T 300297 single nucleotide variant NM_139281.2(WDR36):c.1610-7C>T 772432901 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111110781 111110781 C T 300299 single nucleotide variant NM_139281.2(WDR36):c.1810A>G (p.Ile604Val) 34661294 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110446903 110446903 A G 300299 single nucleotide variant NM_139281.2(WDR36):c.1810A>G (p.Ile604Val) 34661294 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111111204 111111204 A G 300302 single nucleotide variant NM_139281.2(WDR36):c.1879G>C (p.Asp627His) 565004620 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110446972 110446972 G C 300302 single nucleotide variant NM_139281.2(WDR36):c.1879G>C (p.Asp627His) 565004620 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111111273 111111273 G C 300303 single nucleotide variant NM_139281.2(WDR36):c.1992G>A (p.Ser664=) 189495008 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111119040 111119040 G A 300303 single nucleotide variant NM_139281.2(WDR36):c.1992G>A (p.Ser664=) 189495008 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110454738 110454738 G A 300305 single nucleotide variant NM_139281.2(WDR36):c.1981T>C (p.Leu661=) 150378814 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111119029 111119029 T C 300305 single nucleotide variant NM_139281.2(WDR36):c.1981T>C (p.Leu661=) 150378814 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110454727 110454727 T C 300306 single nucleotide variant NM_139281.2(WDR36):c.2011A>G (p.Met671Val) 11956837 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111119059 111119059 A G 300306 single nucleotide variant NM_139281.2(WDR36):c.2011A>G (p.Met671Val) 11956837 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110454757 110454757 A G 300308 single nucleotide variant NM_139281.2(WDR36):c.2137A>G (p.Ile713Val) 78205337 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111120560 111120560 A G 300308 single nucleotide variant NM_139281.2(WDR36):c.2137A>G (p.Ile713Val) 78205337 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110456258 110456258 A G 300309 single nucleotide variant NM_139281.2(WDR36):c.*60C>T 186924041 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111126943 111126943 C T 300309 single nucleotide variant NM_139281.2(WDR36):c.*60C>T 186924041 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110462641 110462641 C T 300310 single nucleotide variant NM_139281.2(WDR36):c.2519-8T>G 10041326 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110461298 110461298 T G 300310 single nucleotide variant NM_139281.2(WDR36):c.2519-8T>G 10041326 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111125600 111125600 T G 300314 single nucleotide variant NM_139281.2(WDR36):c.*93A>C 114583874 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111126976 111126976 A C 300314 single nucleotide variant NM_139281.2(WDR36):c.*93A>C 114583874 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110462674 110462674 A C 300315 single nucleotide variant NM_139281.2(WDR36):c.*171C>T 185097062 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111127054 111127054 C T 300315 single nucleotide variant NM_139281.2(WDR36):c.*171C>T 185097062 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110462752 110462752 C T 300316 single nucleotide variant NM_139281.2(WDR36):c.*230G>C 766383050 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111127113 111127113 G C 300316 single nucleotide variant NM_139281.2(WDR36):c.*230G>C 766383050 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110462811 110462811 G C 300326 single nucleotide variant NM_139281.2(WDR36):c.2527G>A (p.Ala843Thr) 886059765 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111125616 111125616 G A 300326 single nucleotide variant NM_139281.2(WDR36):c.2527G>A (p.Ala843Thr) 886059765 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110461314 110461314 G A 300327 single nucleotide variant NM_139281.2(WDR36):c.*450A>C 886059767 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111127333 111127333 A C 300327 single nucleotide variant NM_139281.2(WDR36):c.*450A>C 886059767 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110463031 110463031 A C 300328 single nucleotide variant NM_139281.2(WDR36):c.*723C>G 193032017 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111127606 111127606 C G 300328 single nucleotide variant NM_139281.2(WDR36):c.*723C>G 193032017 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110463304 110463304 C G 300329 single nucleotide variant NM_139281.2(WDR36):c.*282A>G 141199096 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111127165 111127165 A G 300329 single nucleotide variant NM_139281.2(WDR36):c.*282A>G 141199096 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110462863 110462863 A G 300331 single nucleotide variant NM_139281.2(WDR36):c.*338A>T 17625012 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111127221 111127221 A T 300331 single nucleotide variant NM_139281.2(WDR36):c.*338A>T 17625012 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110462919 110462919 A T 300335 single nucleotide variant NM_139281.2(WDR36):c.*360A>T 529466006 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111127243 111127243 A T 300335 single nucleotide variant NM_139281.2(WDR36):c.*360A>T 529466006 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110462941 110462941 A T 300341 single nucleotide variant NM_139281.2(WDR36):c.*1010G>A 533342165 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111127893 111127893 G A 300341 single nucleotide variant NM_139281.2(WDR36):c.*1010G>A 533342165 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110463591 110463591 G A 300342 single nucleotide variant NM_139281.2(WDR36):c.*406A>G 2032835 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111127289 111127289 A G 300342 single nucleotide variant NM_139281.2(WDR36):c.*406A>G 2032835 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110462987 110462987 A G 300345 single nucleotide variant NM_139281.2(WDR36):c.*903A>G 185234710 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111127786 111127786 A G 300345 single nucleotide variant NM_139281.2(WDR36):c.*903A>G 185234710 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110463484 110463484 A G 300346 single nucleotide variant NM_139281.2(WDR36):c.*1040G>T 56329138 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110463621 110463621 G T 300346 single nucleotide variant NM_139281.2(WDR36):c.*1040G>T 56329138 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111127923 111127923 G T 300347 single nucleotide variant NM_139281.2(WDR36):c.*945A>G 886059769 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110463526 110463526 A G 300347 single nucleotide variant NM_139281.2(WDR36):c.*945A>G 886059769 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111127828 111127828 A G 300348 single nucleotide variant NM_139281.2(WDR36):c.*952C>A 189735907 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111127835 111127835 C A 300348 single nucleotide variant NM_139281.2(WDR36):c.*952C>A 189735907 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110463533 110463533 C A 300349 insertion NM_139281.2(WDR36):c.*1044_*1045insG 886059770 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110463625 110463626 - G 300349 insertion NM_139281.2(WDR36):c.*1044_*1045insG 886059770 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111127927 111127928 - G 300350 single nucleotide variant NM_139281.2(WDR36):c.*1202G>C 116166244 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111128085 111128085 G C 300350 single nucleotide variant NM_139281.2(WDR36):c.*1202G>C 116166244 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110463783 110463783 G C 300351 single nucleotide variant NM_139281.2(WDR36):c.*1050T>G 552084607 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110463631 110463631 T G 300351 single nucleotide variant NM_139281.2(WDR36):c.*1050T>G 552084607 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111127933 111127933 T G 300353 deletion NM_139281.2(WDR36):c.*1061delG 886059771 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110463642 110463642 G - 300353 deletion NM_139281.2(WDR36):c.*1061delG 886059771 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111127944 111127944 G - 300355 single nucleotide variant NM_139281.2(WDR36):c.*1129C>A 183583946 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111128012 111128012 C A 300355 single nucleotide variant NM_139281.2(WDR36):c.*1129C>A 183583946 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110463710 110463710 C A 300356 single nucleotide variant NM_139281.2(WDR36):c.*1427T>C 1043828 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111128310 111128310 T C 300356 single nucleotide variant NM_139281.2(WDR36):c.*1427T>C 1043828 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110464008 110464008 T C 300359 single nucleotide variant NM_139281.2(WDR36):c.*1735A>T 886059774 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111128618 111128618 A T 300359 single nucleotide variant NM_139281.2(WDR36):c.*1735A>T 886059774 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110464316 110464316 A T 300360 single nucleotide variant NM_139281.2(WDR36):c.*1740C>T 886059775 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111128623 111128623 C T 300360 single nucleotide variant NM_139281.2(WDR36):c.*1740C>T 886059775 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110464321 110464321 C T 300362 single nucleotide variant NM_139281.2(WDR36):c.*1533G>A 17132810 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111128416 111128416 G A 300362 single nucleotide variant NM_139281.2(WDR36):c.*1533G>A 17132810 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110464114 110464114 G A 300363 single nucleotide variant NM_139281.2(WDR36):c.*1812A>T 11948089 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111128695 111128695 A T 300363 single nucleotide variant NM_139281.2(WDR36):c.*1812A>T 11948089 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110464393 110464393 A T 300365 single nucleotide variant NM_139281.2(WDR36):c.*2223C>T 886059779 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111129106 111129106 C T 300365 single nucleotide variant NM_139281.2(WDR36):c.*2223C>T 886059779 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110464804 110464804 C T 300366 single nucleotide variant NM_139281.2(WDR36):c.*2638T>G 886059783 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111129521 111129521 T G 300366 single nucleotide variant NM_139281.2(WDR36):c.*2638T>G 886059783 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110465219 110465219 T G 300373 single nucleotide variant NM_139281.2(WDR36):c.*2106T>C 192008817 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111128989 111128989 T C 300373 single nucleotide variant NM_139281.2(WDR36):c.*2106T>C 192008817 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110464687 110464687 T C 300378 single nucleotide variant NM_139281.2(WDR36):c.*2764C>A 4957925 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111129647 111129647 C A 300378 single nucleotide variant NM_139281.2(WDR36):c.*2764C>A 4957925 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110465345 110465345 C A 300382 single nucleotide variant NM_139281.2(WDR36):c.*2133C>A 545595431 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111129016 111129016 C A 300382 single nucleotide variant NM_139281.2(WDR36):c.*2133C>A 545595431 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110464714 110464714 C A 300385 deletion NM_139281.2(WDR36):c.*2282_*2284delCTT 886059780 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111129165 111129167 CTT - 300385 deletion NM_139281.2(WDR36):c.*2282_*2284delCTT 886059780 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110464863 110464865 CTT - 300388 single nucleotide variant NM_139281.2(WDR36):c.*2892G>A 886059787 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111129775 111129775 G A 300388 single nucleotide variant NM_139281.2(WDR36):c.*2892G>A 886059787 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110465473 110465473 G A 300391 single nucleotide variant NM_139281.2(WDR36):c.*2712C>A 115749505 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111129595 111129595 C A 300391 single nucleotide variant NM_139281.2(WDR36):c.*2712C>A 115749505 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110465293 110465293 C A 300398 single nucleotide variant NM_139281.2(WDR36):c.*3102C>G 6859454 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111129985 111129985 C G 300398 single nucleotide variant NM_139281.2(WDR36):c.*3102C>G 6859454 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110465683 110465683 C G 300399 single nucleotide variant NM_139281.2(WDR36):c.*2927G>A 186873182 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111129810 111129810 G A 300399 single nucleotide variant NM_139281.2(WDR36):c.*2927G>A 186873182 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110465508 110465508 G A 300400 single nucleotide variant NM_139281.2(WDR36):c.*3238G>A 377324420 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111130121 111130121 G A 300400 single nucleotide variant NM_139281.2(WDR36):c.*3238G>A 377324420 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110465819 110465819 G A 300401 single nucleotide variant NM_139281.2(WDR36):c.*3382C>A 567232581 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111130265 111130265 C A 300401 single nucleotide variant NM_139281.2(WDR36):c.*3382C>A 567232581 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110465963 110465963 C A 300407 single nucleotide variant NM_139281.2(WDR36):c.*3457A>G 886059789 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110466038 110466038 A G 300407 single nucleotide variant NM_139281.2(WDR36):c.*3457A>G 886059789 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111130340 111130340 A G 300408 single nucleotide variant NM_139281.2(WDR36):c.*3576A>G 886059790 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110466157 110466157 A G 300408 single nucleotide variant NM_139281.2(WDR36):c.*3576A>G 886059790 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111130459 111130459 A G 300410 deletion NM_139281.2(WDR36):c.*3598_*3602delTAATA 886059792 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110466179 110466183 TAATA - 300410 deletion NM_139281.2(WDR36):c.*3598_*3602delTAATA 886059792 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111130481 111130485 TAATA - 353675 single nucleotide variant NM_139281.2(WDR36):c.*3631C>T 565965136 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 110466212 110466212 C T 353675 single nucleotide variant NM_139281.2(WDR36):c.*3631C>T 565965136 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 5 111130514 111130514 C T

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 5 110427347 rs7723819 G A rs7723819 2.11E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A nearGene-5 GWASdb_trait 5 110427347 rs7723819 G A rs7723819 2.28E-15 Self-reported allergy HPOID:0002715 DOID:0060056 A nearGene-5 GWASdb_trait 5 110428744 rs7729832 G A rs7729832 1.42E-05 Self-reported allergy HPOID:0002715 DOID:0060056 G intron GWASdb_trait 5 110429241 rs1971050 C T rs1971050 1.59E-04 Self-reported allergy HPOID:0002715 DOID:0060056 T intron GWASdb_trait 5 110429955 rs1370964 A G rs1370964 2.61E-05 Self-reported allergy HPOID:0002715 DOID:0060056 A intron GWASdb_trait 5 110430488 rs17623144 C G rs17623144 7.97E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 5 110430488 rs17623144 C G rs17623144 1.10E-11 Self-reported allergy HPOID:0002715 DOID:0060056 C intron GWASdb_trait 5 110433086 rs13185610 A G rs13185610 1.09E-07 Self-reported allergy HPOID:0002715 DOID:0060056 A intron GWASdb_trait 5 110433098 rs1993465 A G rs1993465 1.33E-15 Self-reported allergy HPOID:0002715 DOID:0060056 C intron GWASdb_trait 5 110433391 rs13357747 C A rs13357747 2.44E-05 Self-reported allergy HPOID:0002715 DOID:0060056 C intron GWASdb_trait 5 110434261 rs7705304 T G rs7705304 3.15E-05 Self-reported allergy HPOID:0002715 DOID:0060056 T intron GWASdb_trait 5 110434307 rs13153937 G A rs13153937 1.14E-07 Self-reported allergy HPOID:0002715 DOID:0060056 G intron GWASdb_trait 5 110435231 rs6859041 G A rs6859041 1.42E-15 Self-reported allergy HPOID:0002715 DOID:0060056 A intron GWASdb_trait 5 110435490 rs2416257 C T rs2416257 1.00E-06 Eosinophil counts HPOID:0001879|HPOID:0001658|HPOID:0002099 DOID:999|DOID:2841|DOID:5844 G intron GWASdb_trait 5 110435490 rs2416257 C T rs2416257 1.88E-05 Self-reported allergy HPOID:0002715 DOID:0060056 G intron GWASdb_trait 5 110436450 rs10038177 C T rs10038177 1.64E-15 Self-reported allergy HPOID:0002715 DOID:0060056 T intron GWASdb_trait 5 110436852 rs6865932 G C rs6865932 1.78E-15 Self-reported allergy HPOID:0002715 DOID:0060056 C intron GWASdb_trait 5 110437494 rs17132782 A G rs17132782 1.84E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 5 110438357 rs10045255 A G rs10045255 1.82E-15 Self-reported allergy HPOID:0002715 DOID:0060056 A intron GWASdb_trait 5 110439509 rs11241095 A G rs11241095 1.47E-07 Self-reported allergy HPOID:0002715 DOID:0060056 A missense GWASdb_trait 5 110441439 rs1379300 T C rs1379300 7.20E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 5 110441439 rs1379300 T C rs1379300 1.25E-15 Self-reported allergy HPOID:0002715 DOID:0060056 T intron GWASdb_trait 5 110441533 rs2034896 G A rs2034896 8.09E-16 Self-reported allergy HPOID:0002715 DOID:0060056 A intron GWASdb_trait 5 110442137 rs10056179 A G rs10056179 2.78E-05 Self-reported allergy HPOID:0002715 DOID:0060056 A intron GWASdb_trait 5 110443281 rs10038058 A G rs10038058 1.40E-15 Self-reported allergy HPOID:0002715 DOID:0060056 G intron GWASdb_trait 5 110444909 rs10039043 A G rs10039043 7.24E-05 Self-reported allergy HPOID:0002715 DOID:0060056 A intron GWASdb_trait 5 110447853 rs12515367 A G rs12515367 1.53E-07 Self-reported allergy HPOID:0002715 DOID:0060056 A intron GWASdb_trait 5 110448313 rs12521169 G A rs12521169 1.12E-07 Self-reported allergy HPOID:0002715 DOID:0060056 G intron GWASdb_trait 5 110449346 rs2112541 T C rs2112541 3.67E-14 Self-reported allergy HPOID:0002715 DOID:0060056 C intron GWASdb_trait 5 110449357 rs10060003 A G rs10060003 2.00E-14 Self-reported allergy HPOID:0002715 DOID:0060056 A intron GWASdb_trait 5 110450584 rs10055177 T G rs10055177 2.12E-14 Self-reported allergy HPOID:0002715 DOID:0060056 G,T intron GWASdb_trait 5 110452845 rs10051830 G A rs10051830 1.49E-14 Self-reported allergy HPOID:0002715 DOID:0060056 A intron GWASdb_trait 5 110453806 rs10491424 T C rs10491424 2.36E-10 Self-reported allergy HPOID:0002715 DOID:0060056 A intron GWASdb_trait 5 110453977 rs10491423 C A rs10491423 1.37E-07 Self-reported allergy HPOID:0002715 DOID:0060056 G intron GWASdb_trait 5 110454681 rs17553936 A C,G,T rs17553936 1.26E-07 Self-reported allergy HPOID:0002715 DOID:0060056 A intron GWASdb_trait 5 110455266 rs12522383 G A rs12522383 1.21E-07 Self-reported allergy HPOID:0002715 DOID:0060056 G intron GWASdb_trait 5 110456704 rs13186912 A T rs13186912 1.20E-07 Self-reported allergy HPOID:0002715 DOID:0060056 A cds-synon GWASdb_trait 5 110457095 rs4957924 C T rs4957924 1.74E-04 Self-reported allergy HPOID:0002715 DOID:0060056 T intron GWASdb_trait 5 110457158 rs17624673 C T rs17624673 8.51E-12 Self-reported allergy HPOID:0002715 DOID:0060056 C intron GWASdb_trait 5 110457983 rs43203 G A rs43203 9.03E-05 Self-reported allergy HPOID:0002715 DOID:0060056 G intron GWASdb_trait 5 110460747 rs7722241 T A rs7722241 1.46E-09 Self-reported allergy HPOID:0002715 DOID:0060056 T intron GWASdb_trait 5 110460851 rs7702774 G T rs7702774 1.13E-14 Self-reported allergy HPOID:0002715 DOID:0060056 T intron GWASdb_trait 5 110462230 rs4530809 A G rs4530809 2.90E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 5 110462230 rs4530809 A G rs4530809 1.79E-10 Self-reported allergy HPOID:0002715 DOID:0060056 A intron GWASdb_trait 5 110464008 rs1043828 T C rs1043828 1.10E-08 Asthma HPOID:0002099 DOID:2841 T UTR-3 GWASdb_trait 5 110464008 rs1043828 T C rs1043828 5.98E-12 Self-reported allergy HPOID:0002715 DOID:0060056 T UTR-3 GWASdb_trait 5 110464393 rs11948089 A T rs11948089 7.60E-05 Self-reported allergy HPOID:0002715 DOID:0060056 T UTR-3 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000134987.11 WDR36 609669