Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 16753 deletion ERCC8, 279-BP DEL, 81-BP DEL -1 MedGen:C0751039,OMIM:216400,Orphanet:ORPHA90321 na -1 -1 na na 16754 single nucleotide variant NM_000082.3(ERCC8):c.966C>A (p.Tyr322Ter) 121434323 MedGen:C0751039,OMIM:216400,Orphanet:ORPHA90321 5 60186791 60186791 G T 16754 single nucleotide variant NM_000082.3(ERCC8):c.966C>A (p.Tyr322Ter) 121434323 MedGen:C0751039,OMIM:216400,Orphanet:ORPHA90321 5 60890964 60890964 G T 16755 single nucleotide variant NM_000082.3(ERCC8):c.37G>T (p.Glu13Ter) 121434324 MedGen:C0751039,OMIM:216400,Orphanet:ORPHA90321 5 60240799 60240799 C A 16755 single nucleotide variant NM_000082.3(ERCC8):c.37G>T (p.Glu13Ter) 121434324 MedGen:C0751039,OMIM:216400,Orphanet:ORPHA90321 5 60944972 60944972 C A 16756 single nucleotide variant NM_000082.3(ERCC8):c.479C>T (p.Ala160Val) 121434325 MedGen:C0751039,OMIM:216400,Orphanet:ORPHA90321;MedGen:CN221809 5 60200621 60200621 G A 16756 single nucleotide variant NM_000082.3(ERCC8):c.479C>T (p.Ala160Val) 121434325 MedGen:C0751039,OMIM:216400,Orphanet:ORPHA90321;MedGen:CN221809 5 60904794 60904794 G A 16757 single nucleotide variant NM_000082.3(ERCC8):c.613G>C (p.Ala205Pro) 121434326 MedGen:C0751039,OMIM:216400,Orphanet:ORPHA90321;MedGen:CN221809 5 60198273 60198273 C G 16757 single nucleotide variant NM_000082.3(ERCC8):c.613G>C (p.Ala205Pro) 121434326 MedGen:C0751039,OMIM:216400,Orphanet:ORPHA90321;MedGen:CN221809 5 60902446 60902446 C G 79644 single nucleotide variant NM_000082.3(ERCC8):c.1083G>T (p.Trp361Cys) 281875221 MedGen:C3553298,OMIM:614621;MedGen:CN221809 5 60183306 60183306 C A 79644 single nucleotide variant NM_000082.3(ERCC8):c.1083G>T (p.Trp361Cys) 281875221 MedGen:C3553298,OMIM:614621;MedGen:CN221809 5 60887479 60887479 C A 79645 single nucleotide variant NM_000082.3(ERCC8):c.478G>A (p.Ala160Thr) 281875222 MedGen:CN221809 5 60200622 60200622 C T 79645 single nucleotide variant NM_000082.3(ERCC8):c.478G>A (p.Ala160Thr) 281875222 MedGen:CN221809 5 60904795 60904795 C T 79646 single nucleotide variant NM_000082.3(ERCC8):c.582G>C (p.Trp194Cys) 281875223 MedGen:CN221809 5 60198304 60198304 C G 79646 single nucleotide variant NM_000082.3(ERCC8):c.582G>C (p.Trp194Cys) 281875223 MedGen:CN221809 5 60902477 60902477 C G 79647 single nucleotide variant NM_000082.3(ERCC8):c.605T>C (p.Leu202Ser) 281875224 MedGen:CN221809 5 60198281 60198281 A G 79647 single nucleotide variant NM_000082.3(ERCC8):c.605T>C (p.Leu202Ser) 281875224 MedGen:CN221809 5 60902454 60902454 A G 79648 single nucleotide variant NM_000082.3(ERCC8):c.797A>G (p.Asp266Gly) 281875225 MedGen:CN221809 5 60194149 60194149 T C 79648 single nucleotide variant NM_000082.3(ERCC8):c.797A>G (p.Asp266Gly) 281875225 MedGen:CN221809 5 60898322 60898322 T C 187981 single nucleotide variant NM_000082.3(ERCC8):c.435T>C (p.Tyr145=) 4647100 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;MedGen:CN169374 5 60904838 60904838 A G 187981 single nucleotide variant NM_000082.3(ERCC8):c.435T>C (p.Tyr145=) 4647100 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;MedGen:CN169374 5 60200665 60200665 A G 187982 single nucleotide variant NM_000082.3(ERCC8):c.363T>C (p.Asp121=) 4647088 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;MedGen:CN169374 5 60918301 60918301 A G 187982 single nucleotide variant NM_000082.3(ERCC8):c.363T>C (p.Asp121=) 4647088 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;MedGen:CN169374 5 60214128 60214128 A G 187983 deletion NM_000082.3(ERCC8):c.141delC (p.Asn47Lysfs) 786205176 MedGen:C0751039,OMIM:216400,Orphanet:ORPHA90321 5 60928896 60928896 G - 187983 deletion NM_000082.3(ERCC8):c.141delC (p.Asn47Lysfs) 786205176 MedGen:C0751039,OMIM:216400,Orphanet:ORPHA90321 5 60224723 60224723 G - 189000 single nucleotide variant NM_000082.3(ERCC8):c.1016G>A (p.Cys339Tyr) 786205573 MedGen:CN221809 5 60186741 60186741 C T 189000 single nucleotide variant NM_000082.3(ERCC8):c.1016G>A (p.Cys339Tyr) 786205573 MedGen:CN221809 5 60890914 60890914 C T 190958 single nucleotide variant NM_000082.3(ERCC8):c.1080T>C (p.Ala360=) 4647130 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;MedGen:CN169374 5 60183309 60183309 A G 190958 single nucleotide variant NM_000082.3(ERCC8):c.1080T>C (p.Ala360=) 4647130 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;MedGen:CN169374 5 60887482 60887482 A G 192174 single nucleotide variant NM_000082.3(ERCC8):c.127G>A (p.Gly43Ser) 794727233 MedGen:CN169374 5 60224737 60224737 C T 192174 single nucleotide variant NM_000082.3(ERCC8):c.127G>A (p.Gly43Ser) 794727233 MedGen:CN169374 5 60928910 60928910 C T 196149 single nucleotide variant NM_000082.3(ERCC8):c.839C>A (p.Thr280Lys) 61754098 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;MedGen:CN169374 5 60194107 60194107 G T 196149 single nucleotide variant NM_000082.3(ERCC8):c.839C>A (p.Thr280Lys) 61754098 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;MedGen:CN169374 5 60898280 60898280 G T 246989 single nucleotide variant NM_000082.3(ERCC8):c.1129A>G (p.Thr377Ala) 879255338 MedGen:CN169374 5 60170504 60170504 T C 246989 single nucleotide variant NM_000082.3(ERCC8):c.1129A>G (p.Thr377Ala) 879255338 MedGen:CN169374 5 60874677 60874677 T C 251973 single nucleotide variant NM_000082.3(ERCC8):c.482-17C>T 201126529 MedGen:CN169374 5 60903733 60903733 G A 251973 single nucleotide variant NM_000082.3(ERCC8):c.482-17C>T 201126529 MedGen:CN169374 5 60199560 60199560 G A 251974 single nucleotide variant NM_000082.3(ERCC8):c.77+16C>T 4647039 MedGen:CN169374 5 60944916 60944916 G A 251974 single nucleotide variant NM_000082.3(ERCC8):c.77+16C>T 4647039 MedGen:CN169374 5 60240743 60240743 G A 265409 single nucleotide variant NM_000082.3(ERCC8):c.510T>C (p.Leu170=) 886042104 MedGen:CN169374 5 60199515 60199515 A G 265409 single nucleotide variant NM_000082.3(ERCC8):c.510T>C (p.Leu170=) 886042104 MedGen:CN169374 5 60903688 60903688 A G 268142 single nucleotide variant NM_000082.3(ERCC8):c.152T>C (p.Ile51Thr) 369140985 MedGen:CN169374 5 60224712 60224712 A G 268142 single nucleotide variant NM_000082.3(ERCC8):c.152T>C (p.Ile51Thr) 369140985 MedGen:CN169374 5 60928885 60928885 A G 270027 single nucleotide variant NM_000082.3(ERCC8):c.42C>T (p.Asp14=) 886043215 MedGen:CN169374 5 60240794 60240794 G A 270027 single nucleotide variant NM_000082.3(ERCC8):c.42C>T (p.Asp14=) 886043215 MedGen:CN169374 5 60944967 60944967 G A 272557 single nucleotide variant NM_000082.3(ERCC8):c.250T>C (p.Cys84Arg) 146740678 MedGen:CN169374 5 60217906 60217906 A G 272557 single nucleotide variant NM_000082.3(ERCC8):c.250T>C (p.Cys84Arg) 146740678 MedGen:CN169374 5 60922079 60922079 A G 273021 single nucleotide variant NM_000082.3(ERCC8):c.-3G>A 199968351 MedGen:CN169374 5 60240838 60240838 C T 273021 single nucleotide variant NM_000082.3(ERCC8):c.-3G>A 199968351 MedGen:CN169374 5 60945011 60945011 C T 297902 single nucleotide variant NM_000082.3(ERCC8):c.*763A>C 886060717 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60873852 60873852 T G 297902 single nucleotide variant NM_000082.3(ERCC8):c.*763A>C 886060717 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60169679 60169679 T G 297911 single nucleotide variant NM_000082.3(ERCC8):c.*725T>G 549186090 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60873890 60873890 A C 297911 single nucleotide variant NM_000082.3(ERCC8):c.*725T>G 549186090 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60169717 60169717 A C 297917 single nucleotide variant NM_000082.3(ERCC8):c.*462T>A 886060719 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60874153 60874153 A T 297917 single nucleotide variant NM_000082.3(ERCC8):c.*462T>A 886060719 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60169980 60169980 A T 297919 single nucleotide variant NM_000082.3(ERCC8):c.*237T>C 4647153 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60874378 60874378 A G 297919 single nucleotide variant NM_000082.3(ERCC8):c.*237T>C 4647153 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60170205 60170205 A G 297922 single nucleotide variant NM_000082.3(ERCC8):c.1105G>C (p.Val369Leu) 543291626 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60887457 60887457 C G 297922 single nucleotide variant NM_000082.3(ERCC8):c.1105G>C (p.Val369Leu) 543291626 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60183284 60183284 C G 297923 single nucleotide variant NM_000082.3(ERCC8):c.1070A>G (p.Asn357Ser) 199590588 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60887492 60887492 T C 297923 single nucleotide variant NM_000082.3(ERCC8):c.1070A>G (p.Asn357Ser) 199590588 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60183319 60183319 T C 297927 single nucleotide variant NM_000082.3(ERCC8):c.409G>A (p.Val137Ile) 150952570 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60904864 60904864 C T 297927 single nucleotide variant NM_000082.3(ERCC8):c.409G>A (p.Val137Ile) 150952570 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60200691 60200691 C T 297930 single nucleotide variant NM_000082.3(ERCC8):c.149A>G (p.Asp50Gly) 373174008 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60224715 60224715 T C 297930 single nucleotide variant NM_000082.3(ERCC8):c.149A>G (p.Asp50Gly) 373174008 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60928888 60928888 T C 297931 single nucleotide variant NM_000082.3(ERCC8):c.66G>A (p.Glu22=) 149130938 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60240770 60240770 C T 297931 single nucleotide variant NM_000082.3(ERCC8):c.66G>A (p.Glu22=) 149130938 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60944943 60944943 C T 297932 single nucleotide variant NM_000082.3(ERCC8):c.-23T>G 4647038 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60240858 60240858 A C 297932 single nucleotide variant NM_000082.3(ERCC8):c.-23T>G 4647038 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60945031 60945031 A C 300093 single nucleotide variant NM_000082.3(ERCC8):c.*439G>T 4647155 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60874176 60874176 C A 300093 single nucleotide variant NM_000082.3(ERCC8):c.*439G>T 4647155 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60170003 60170003 C A 300095 duplication NM_000082.3(ERCC8):c.*373_*375dupTCA 886060720 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60874240 60874242 TGA TGATGA 300095 duplication NM_000082.3(ERCC8):c.*373_*375dupTCA 886060720 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60170067 60170069 TGA TGATGA 300097 single nucleotide variant NM_000082.3(ERCC8):c.*105T>C 3117 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60874510 60874510 A G 300097 single nucleotide variant NM_000082.3(ERCC8):c.*105T>C 3117 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60170337 60170337 A G 300098 single nucleotide variant NM_000082.3(ERCC8):c.*36C>T 4647152 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60170406 60170406 G A 300098 single nucleotide variant NM_000082.3(ERCC8):c.*36C>T 4647152 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60874579 60874579 G A 300099 single nucleotide variant NM_000082.3(ERCC8):c.311C>G (p.Thr104Ser) 886060722 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60214180 60214180 G C 300099 single nucleotide variant NM_000082.3(ERCC8):c.311C>G (p.Thr104Ser) 886060722 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60918353 60918353 G C 300100 single nucleotide variant NM_000082.3(ERCC8):c.-25G>C 745927528 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60240860 60240860 C G 300100 single nucleotide variant NM_000082.3(ERCC8):c.-25G>C 745927528 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60945033 60945033 C G 304328 single nucleotide variant NM_000082.3(ERCC8):c.*519C>A 4647157 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60874096 60874096 G T 304328 single nucleotide variant NM_000082.3(ERCC8):c.*519C>A 4647157 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60169923 60169923 G T 304331 single nucleotide variant NM_000082.3(ERCC8):c.812T>C (p.Leu271Pro) 886060721 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60898307 60898307 A G 304331 single nucleotide variant NM_000082.3(ERCC8):c.812T>C (p.Leu271Pro) 886060721 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60194134 60194134 A G 304354 single nucleotide variant NM_000082.3(ERCC8):c.551-10G>T 758296965 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60902518 60902518 C A 304354 single nucleotide variant NM_000082.3(ERCC8):c.551-10G>T 758296965 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60198345 60198345 C A 304356 single nucleotide variant NM_000082.3(ERCC8):c.472T>C (p.Leu158=) 561001438 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60904801 60904801 A G 304356 single nucleotide variant NM_000082.3(ERCC8):c.472T>C (p.Leu158=) 561001438 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60200628 60200628 A G 304360 single nucleotide variant NM_000082.3(ERCC8):c.173+9A>G 143356896 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60224682 60224682 T C 304360 single nucleotide variant NM_000082.3(ERCC8):c.173+9A>G 143356896 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60928855 60928855 T C 304691 single nucleotide variant NM_000082.3(ERCC8):c.*724C>G 886060718 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60873891 60873891 G C 304691 single nucleotide variant NM_000082.3(ERCC8):c.*724C>G 886060718 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60169718 60169718 G C 304692 single nucleotide variant NM_000082.3(ERCC8):c.430G>A (p.Val144Ile) 192695896 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60904843 60904843 C T 304692 single nucleotide variant NM_000082.3(ERCC8):c.430G>A (p.Val144Ile) 192695896 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60200670 60200670 C T 353732 single nucleotide variant NM_000082.3(ERCC8):c.-133C>G 4647037 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60240968 60240968 G C 353732 single nucleotide variant NM_000082.3(ERCC8):c.-133C>G 4647037 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 5 60945141 60945141 G C 357419 single nucleotide variant NM_000082.3(ERCC8):c.300C>G (p.Tyr100Ter) 143367518 MedGen:C0751039,OMIM:216400,Orphanet:ORPHA90321 5 60918364 60918364 G C 357419 single nucleotide variant NM_000082.3(ERCC8):c.300C>G (p.Tyr100Ter) 143367518 MedGen:C0751039,OMIM:216400,Orphanet:ORPHA90321 5 60214191 60214191 G C

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 5 60186618 rs2306350 C T rs2306350 0.0000735 METHIONINE CASPASE 1|CASPASE 9|CASP9 PROTEIN, HUMAN|5'-METHYLTHIOADENOSINE|APIP PROTEIN, HUMAN|DEOXYADENOSINES|THIONUCLEOSIDES|APOPTOSIS REGULATORY PROTEINS Salmonella-induced pyroptosis NA NA T intron GWASdb_drug 5 60186975 rs2306351 C A rs2306351 0.0000778 METHIONINE CASPASE 1|CASPASE 9|CASP9 PROTEIN, HUMAN|5'-METHYLTHIOADENOSINE|APIP PROTEIN, HUMAN|DEOXYADENOSINES|THIONUCLEOSIDES|APOPTOSIS REGULATORY PROTEINS Salmonella-induced pyroptosis NA NA A intron GWASdb_drug 5 60197715 rs4647108 C T rs4647108 0.0000909 METHIONINE CASPASE 1|CASPASE 9|CASP9 PROTEIN, HUMAN|5'-METHYLTHIOADENOSINE|APIP PROTEIN, HUMAN|DEOXYADENOSINES|THIONUCLEOSIDES|APOPTOSIS REGULATORY PROTEINS Salmonella-induced pyroptosis NA NA G intron GWASdb_drug 5 60217038 rs4647078 G A rs4647078 0.0000447 METHIONINE CASPASE 1|CASPASE 9|CASP9 PROTEIN, HUMAN|5'-METHYLTHIOADENOSINE|APIP PROTEIN, HUMAN|DEOXYADENOSINES|THIONUCLEOSIDES|APOPTOSIS REGULATORY PROTEINS Salmonella-induced pyroptosis NA NA T,C intron GWASdb_drug 5 60227923 rs158928 A G rs158928 0.0000671 METHIONINE CASPASE 1|CASPASE 9|CASP9 PROTEIN, HUMAN|5'-METHYLTHIOADENOSINE|APIP PROTEIN, HUMAN|DEOXYADENOSINES|THIONUCLEOSIDES|APOPTOSIS REGULATORY PROTEINS Salmonella-induced pyroptosis NA NA T intron GWASdb_drug 5 60186618 rs2306350 C T rs2306350 0.0000735 Salmonella-induced pyroptosis NA NA T intron GWASdb_trait 5 60186975 rs2306351 C A rs2306351 0.0000778 Salmonella-induced pyroptosis NA NA A intron GWASdb_trait 5 60197715 rs4647108 C T rs4647108 0.0000909 Salmonella-induced pyroptosis NA NA G intron GWASdb_trait 5 60217038 rs4647078 G A rs4647078 0.0000447 Salmonella-induced pyroptosis NA NA T,C intron GWASdb_trait 5 60227923 rs158928 A G rs158928 0.0000671 Salmonella-induced pyroptosis NA NA T intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000049167.13 ERCC8 609412