Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 25844 deletion MID1, 3-BP DEL, MET438 -1 MedGen:C0175696,OMIM:300000,SNOMED CT:C0175696 na -1 -1 na na 25845 duplication MID1, 24-BP DUP -1 MedGen:C0175696,OMIM:300000,SNOMED CT:C0175696 na -1 -1 na na 25846 insertion MID1, 1-BP INS -1 MedGen:C0175696,OMIM:300000,SNOMED CT:C0175696 na -1 -1 na na 25847 single nucleotide variant NM_033290.3(MID1):c.1877T>C (p.Leu626Pro) 28934611 MedGen:C0175696,OMIM:300000,SNOMED CT:C0175696 X 10417535 10417535 A G 25847 single nucleotide variant NM_033290.3(MID1):c.1877T>C (p.Leu626Pro) 28934611 MedGen:C0175696,OMIM:300000,SNOMED CT:C0175696 X 10449495 10449495 A G 25848 single nucleotide variant NM_033290.3(MID1):c.343G>T (p.Glu115Ter) 104894865 MedGen:C0175696,OMIM:300000,SNOMED CT:C0175696 X 10535245 10535245 C A 25848 single nucleotide variant NM_033290.3(MID1):c.343G>T (p.Glu115Ter) 104894865 MedGen:C0175696,OMIM:300000,SNOMED CT:C0175696 X 10567205 10567205 C A 25849 duplication MID1, EX1 DUP -1 MedGen:C0175696,OMIM:300000,SNOMED CT:C0175696 na -1 -1 na na 25850 single nucleotide variant NM_033290.3(MID1):c.884T>C (p.Leu295Pro) 104894866 MedGen:C0175696,OMIM:300000,SNOMED CT:C0175696 X 10450649 10450649 A G 25850 single nucleotide variant NM_033290.3(MID1):c.884T>C (p.Leu295Pro) 104894866 MedGen:C0175696,OMIM:300000,SNOMED CT:C0175696 X 10482609 10482609 A G 25851 deletion MID1, 2-BP DEL, 1545GA -1 MedGen:C0175696,OMIM:300000,SNOMED CT:C0175696 na -1 -1 na na 38930 single nucleotide variant NM_033290.3(MID1):c.712G>T (p.Glu238Ter) 387906719 MedGen:C0175696,OMIM:300000,SNOMED CT:C0175696 X 10491176 10491176 C A 38930 single nucleotide variant NM_033290.3(MID1):c.712G>T (p.Glu238Ter) 387906719 MedGen:C0175696,OMIM:300000,SNOMED CT:C0175696 X 10523136 10523136 C A 73185 copy number gain GRCh38/hg38 Xp22.2(chrX:10759076-11065570)x2 -1 - X 10727116 11083690 na na 73185 copy number gain GRCh38/hg38 Xp22.2(chrX:10759076-11065570)x2 -1 - X 10759076 11065570 na na 73185 copy number gain GRCh38/hg38 Xp22.2(chrX:10759076-11065570)x2 -1 - X 10687116 10993611 na na 74861 copy number gain GRCh38/hg38 Xp22.2(chrX:10433348-10502326)x3 -1 - X 10401388 10470366 na na 74861 copy number gain GRCh38/hg38 Xp22.2(chrX:10433348-10502326)x3 -1 - X 10433348 10502326 na na 74861 copy number gain GRCh38/hg38 Xp22.2(chrX:10433348-10502326)x3 -1 - X 10361388 10430366 na na 98780 single nucleotide variant NM_000381.3(MID1):c.1230C>T (p.Ser410=) 16986145 MedGen:CN169374 X 10437792 10437792 G A 98780 single nucleotide variant NM_000381.3(MID1):c.1230C>T (p.Ser410=) 16986145 MedGen:CN169374 X 10469752 10469752 G A 98781 single nucleotide variant NM_033290.3(MID1):c.1299G>A (p.Ser433=) 143673869 MedGen:CN169374 X 10427834 10427834 C T 98781 single nucleotide variant NM_033290.3(MID1):c.1299G>A (p.Ser433=) 143673869 MedGen:CN169374 X 10459794 10459794 C T 98782 single nucleotide variant NM_033290.3(MID1):c.1663A>C (p.Ile555Leu) 398123341 MedGen:CN169374 X 10417749 10417749 T G 98782 single nucleotide variant NM_033290.3(MID1):c.1663A>C (p.Ile555Leu) 398123341 MedGen:CN169374 X 10449709 10449709 T G 98783 duplication NM_033290.3(MID1):c.1798dupC (p.His600Profs) 398123342 MedGen:C0175696,OMIM:300000,SNOMED CT:C0175696;MedGen:CN221809 X 10417614 10417614 G GG 98783 duplication NM_033290.3(MID1):c.1798dupC (p.His600Profs) 398123342 MedGen:C0175696,OMIM:300000,SNOMED CT:C0175696;MedGen:CN221809 X 10449574 10449574 G GG 98784 single nucleotide variant NM_033290.3(MID1):c.1988C>T (p.Thr663Ile) 138558359 MedGen:CN169374 X 10417424 10417424 G A 98784 single nucleotide variant NM_033290.3(MID1):c.1988C>T (p.Thr663Ile) 138558359 MedGen:CN169374 X 10449384 10449384 G A 98785 single nucleotide variant NM_000381.3(MID1):c.2000C>T (p.Pro667Leu) 147106995 MedGen:CN169374 X 10417412 10417412 G A 98785 single nucleotide variant NM_000381.3(MID1):c.2000C>T (p.Pro667Leu) 147106995 MedGen:CN169374 X 10449372 10449372 G A 98786 single nucleotide variant NM_000381.3(MID1):c.498G>A (p.Pro166=) 7391874 MedGen:CN169374 X 10535090 10535090 C T 98786 single nucleotide variant NM_000381.3(MID1):c.498G>A (p.Pro166=) 7391874 MedGen:CN169374 X 10567050 10567050 C T 98787 deletion NM_033290.3(MID1):c.783delA (p.Lys261Asnfs) 398123343 MedGen:C0175696,OMIM:300000,SNOMED CT:C0175696;MedGen:CN221809 X 10463705 10463705 T - 98787 deletion NM_033290.3(MID1):c.783delA (p.Lys261Asnfs) 398123343 MedGen:C0175696,OMIM:300000,SNOMED CT:C0175696;MedGen:CN221809 X 10495665 10495665 T - 98788 single nucleotide variant NM_033290.3(MID1):c.861G>A (p.Gly287=) 147909430 MedGen:CN169374 X 10463627 10463627 C T 98788 single nucleotide variant NM_033290.3(MID1):c.861G>A (p.Gly287=) 147909430 MedGen:CN169374 X 10495587 10495587 C T 98789 single nucleotide variant NM_033290.3(MID1):c.947C>A (p.Ala316Glu) 398123344 MedGen:CN169374 X 10450586 10450586 G T 98789 single nucleotide variant NM_033290.3(MID1):c.947C>A (p.Ala316Glu) 398123344 MedGen:CN169374 X 10482546 10482546 G T 135058 single nucleotide variant NM_000381.3(MID1):c.75C>T (p.Cys25=) 140708189 MedGen:CN169374 X 10535513 10535513 G A 135058 single nucleotide variant NM_000381.3(MID1):c.75C>T (p.Cys25=) 140708189 MedGen:CN169374 X 10567473 10567473 G A 155106 copy number gain GRCh38/hg38 Xp22.2(chrX:10792013-10806827)x2 -1 - X 10810132 10824946 na na 155106 copy number gain GRCh38/hg38 Xp22.2(chrX:10792013-10806827)x2 -1 - X 10792013 10806827 na na 155106 copy number gain GRCh38/hg38 Xp22.2(chrX:10792013-10806827)x2 -1 - X 10720053 10734867 na na 156225 copy number gain GRCh38/hg38 Xp22.2(chrX:10433348-10502326)x2 -1 - X 10401388 10470366 na na 156225 copy number gain GRCh38/hg38 Xp22.2(chrX:10433348-10502326)x2 -1 - X 10433348 10502326 na na 156225 copy number gain GRCh38/hg38 Xp22.2(chrX:10433348-10502326)x2 -1 - X 10361388 10430366 na na 158393 copy number gain GRCh38/hg38 Xp22.2(chrX:10764623-10923531)x2 -1 - X 10732663 10941651 na na 158393 copy number gain GRCh38/hg38 Xp22.2(chrX:10764623-10923531)x2 -1 - X 10764623 10923531 na na 158393 copy number gain GRCh38/hg38 Xp22.2(chrX:10764623-10923531)x2 -1 - X 10692663 10851572 na na 158555 copy number gain GRCh38/hg38 Xp22.2(chrX:10791922-10923531)x3 -1 - X 10810041 10941651 na na 158555 copy number gain GRCh38/hg38 Xp22.2(chrX:10791922-10923531)x3 -1 - X 10791922 10923531 na na 158555 copy number gain GRCh38/hg38 Xp22.2(chrX:10791922-10923531)x3 -1 - X 10719962 10851572 na na 165270 copy number gain GRCh38/hg38 Xp22.2(chrX:10427226-10504306)x3 -1 - X 10395266 10472346 na na 165270 copy number gain GRCh38/hg38 Xp22.2(chrX:10427226-10504306)x3 -1 - X 10427226 10504306 na na 165270 copy number gain GRCh38/hg38 Xp22.2(chrX:10427226-10504306)x3 -1 - X 10355266 10432346 na na 170726 copy number gain GRCh38/hg38 Xp22.2(chrX:10433348-10502326)x3 -1 - X 10401388 10470366 na na 170726 copy number gain GRCh38/hg38 Xp22.2(chrX:10433348-10502326)x3 -1 - X 10433348 10502326 na na 170726 copy number gain GRCh38/hg38 Xp22.2(chrX:10433348-10502326)x3 -1 - X 10361388 10430366 na na 177838 single nucleotide variant NM_033290.3(MID1):c.99C>T (p.Cys33=) 727504015 MedGen:CN169374 X 10535489 10535489 G A 177838 single nucleotide variant NM_033290.3(MID1):c.99C>T (p.Cys33=) 727504015 MedGen:CN169374 X 10567449 10567449 G A 177839 duplication NM_000381.3(MID1):c.1302_1305dupTGAT (p.Ser436Terfs) 786200982 MedGen:C0175696,OMIM:300000,SNOMED CT:C0175696;MedGen:CN221809 X 10427828 10427831 ATCA ATCAATCA 177839 duplication NM_000381.3(MID1):c.1302_1305dupTGAT (p.Ser436Terfs) 786200982 MedGen:C0175696,OMIM:300000,SNOMED CT:C0175696;MedGen:CN221809 X 10459788 10459791 ATCA ATCAATCA 177840 deletion NM_033290.3(MID1):c.849_854delGATCAA (p.Ile284_Lys285del) 727504017 MedGen:CN169374 X 10463634 10463639 TTGATC - 177840 deletion NM_033290.3(MID1):c.849_854delGATCAA (p.Ile284_Lys285del) 727504017 MedGen:CN169374 X 10495594 10495599 TTGATC - 190745 single nucleotide variant NM_033290.3(MID1):c.1767T>C (p.Asn589=) 750022332 MedGen:CN169374 X 10417645 10417645 A G 190745 single nucleotide variant NM_033290.3(MID1):c.1767T>C (p.Asn589=) 750022332 MedGen:CN169374 X 10449605 10449605 A G 192232 single nucleotide variant NM_000381.3(MID1):c.588C>G (p.Ala196=) 41303167 MedGen:CN169374 X 10535000 10535000 G C 192232 single nucleotide variant NM_000381.3(MID1):c.588C>G (p.Ala196=) 41303167 MedGen:CN169374 X 10566960 10566960 G C 193421 duplication NM_033290.3(MID1):c.661-8_661-7dupTT 375668839 MedGen:CN221809;MedGen:CN169374 X 10491234 10491235 AA AAAA 193421 duplication NM_033290.3(MID1):c.661-8_661-7dupTT 375668839 MedGen:CN221809;MedGen:CN169374 X 10523194 10523195 AA AAAA 193422 duplication NM_033290.3(MID1):c.661-7dupT 375668839 MedGen:CN169374 X 10491234 10491234 A AA 193422 duplication NM_033290.3(MID1):c.661-7dupT 375668839 MedGen:CN169374 X 10523194 10523194 A AA 195578 single nucleotide variant NM_033290.3(MID1):c.1266C>T (p.Thr422=) 148477118 MedGen:CN169374 X 10437756 10437756 G A 195578 single nucleotide variant NM_033290.3(MID1):c.1266C>T (p.Thr422=) 148477118 MedGen:CN169374 X 10469716 10469716 G A 195882 insertion NM_033290.3(MID1):c.1447_1447+1insAACA 797044786 MedGen:C0175696,OMIM:300000,SNOMED CT:C0175696 X 10427685 10427686 - TGTT 195882 insertion NM_033290.3(MID1):c.1447_1447+1insAACA 797044786 MedGen:C0175696,OMIM:300000,SNOMED CT:C0175696 X 10459645 10459646 - TGTT 196173 single nucleotide variant NM_033290.3(MID1):c.1537T>C (p.Ser513Pro) 794727956 MedGen:CN169374 X 10454988 10454988 A G 196173 single nucleotide variant NM_033290.3(MID1):c.1537T>C (p.Ser513Pro) 794727956 MedGen:CN169374 X 10423028 10423028 A G 196174 single nucleotide variant NM_033290.3(MID1):c.1561C>T (p.Arg521Cys) 149482288 MedGen:CN169374 X 10454964 10454964 G A 196174 single nucleotide variant NM_033290.3(MID1):c.1561C>T (p.Arg521Cys) 149482288 MedGen:CN169374 X 10423004 10423004 G A 208830 single nucleotide variant NM_000381.3(MID1):c.1510T>C (p.Leu504=) 797045704 MedGen:CN169374 X 10455015 10455015 A G 208830 single nucleotide variant NM_000381.3(MID1):c.1510T>C (p.Leu504=) 797045704 MedGen:CN169374 X 10423055 10423055 A G 208831 single nucleotide variant NM_000381.3(MID1):c.1489C>T (p.Leu497=) 138629923 MedGen:CN169374 X 10455036 10455036 G A 208831 single nucleotide variant NM_000381.3(MID1):c.1489C>T (p.Leu497=) 138629923 MedGen:CN169374 X 10423076 10423076 G A 208832 deletion NM_000381.3(MID1):c.661-8_661-7del 769878968 MedGen:CN169374 X 10491234 10491235 AA - 208832 deletion NM_000381.3(MID1):c.661-8_661-7del 769878968 MedGen:CN169374 X 10523194 10523195 AA - 208833 single nucleotide variant NM_000381.3(MID1):c.420C>G (p.Ser140=) 201845920 MedGen:CN169374 X 10535168 10535168 G C 208833 single nucleotide variant NM_000381.3(MID1):c.420C>G (p.Ser140=) 201845920 MedGen:CN169374 X 10567128 10567128 G C 208834 single nucleotide variant NM_000381.3(MID1):c.342C>T (p.Ala114=) 765698306 MedGen:CN169374 X 10535246 10535246 G A 208834 single nucleotide variant NM_000381.3(MID1):c.342C>T (p.Ala114=) 765698306 MedGen:CN169374 X 10567206 10567206 G A 269098 insertion NM_033290.3(MID1):c.1419_1420insCGCAGC (p.Ser473_Ser474insArgSer) 748883619 MedGen:CN169374 X 10427713 10427714 - GCTGCG 269098 insertion NM_033290.3(MID1):c.1419_1420insCGCAGC (p.Ser473_Ser474insArgSer) 748883619 MedGen:CN169374 X 10459673 10459674 - GCTGCG

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug X 10541110 rs7053320 C T rs7053320 2.44E-12 Metabolite levels HPOID:0001939 DOID:655 T intron GWASdb_trait X 10842287 rs5979356 A G rs5979356 7.70E-04 Amyotrophic Lateral Sclerosis HPOID:0007354 DOID:332 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 rs960419 X 10678074 10678074 intronic 0.94125 0.026295010791243 GWAS of prostate cancer rs7059850 X 10632780 10632780 intronic 0.914869 0.038641088064869905 GWAS of prostate cancer rs7051591 X 10619376 10619376 intronic 0.909108 0.0413845204987128 GWAS of prostate cancer rs5979317 X 10502458 10502458 intronic 0.898312 0.0465727988061363 GWAS of prostate cancer rs7878745 X 10722712 10722712 intronic 0.809 0.09205147838772769 GWAS of prostate cancer rs2897495 X 10826354 10826354 intronic 0.781873 0.10686378386907501 GWAS of prostate cancer rs12852005 X 10535838 10535838 intronic 0.6905 0.16083631708535 GWAS of prostate cancer rs869917 X 10525055 10525055 intronic 0.584035 0.233561125744799 GWAS of prostate cancer rs12849558 X 10724053 10724053 intronic 0.540636 0.267095038769005 GWAS of prostate cancer rs685615 X 10627948 10627948 intronic 0.484098 0.315066711597404 GWAS of prostate cancer rs12855797 X 10723386 10723386 intronic 0.429815 0.36671843225184697 GWAS of prostate cancer rs974581 X 10735037 10735037 intronic 0.386273 0.413105647435859 GWAS of prostate cancer rs2525070 X 10542627 10542627 intronic 0.353328 0.451821944892773 GWAS of prostate cancer rs2188377 X 10710089 10710089 intronic 0.266847 0.573737675344072 GWAS of prostate cancer rs5933848 X 10657891 10657891 intronic 0.230556 0.6372235711978379

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000101871.14 MID1 300552