Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 171893 duplication NM_006766.4(KAT6A):c.4292dupT (p.Leu1431Phefs) 786200956 MedGen:CN221809 8 41933928 41933928 A AA 171893 duplication NM_006766.4(KAT6A):c.4292dupT (p.Leu1431Phefs) 786200956 MedGen:CN221809 8 41791446 41791446 A AA 171894 single nucleotide variant NM_006766.4(KAT6A):c.4108G>T (p.Glu1370Ter) 138944476 MedGen:CN228654,OMIM:616268;MedGen:CN221809 8 41934112 41934112 C A 171894 single nucleotide variant NM_006766.4(KAT6A):c.4108G>T (p.Glu1370Ter) 138944476 MedGen:CN228654,OMIM:616268;MedGen:CN221809 8 41791630 41791630 C A 171895 insertion NM_006766.4(KAT6A):c.3830_3831insTT (p.Arg1278Serfs) 786200955 MedGen:CN221809 8 41934389 41934390 - AA 171895 insertion NM_006766.4(KAT6A):c.3830_3831insTT (p.Arg1278Serfs) 786200955 MedGen:CN221809 8 41791907 41791908 - AA 172292 deletion NM_006766.4(KAT6A):c.3116_3117delCT (p.Ser1039Terfs) 786200959 MedGen:CN225187;MedGen:CN228654,OMIM:616268 8 41795009 41795010 AG - 172292 deletion NM_006766.4(KAT6A):c.3116_3117delCT (p.Ser1039Terfs) 786200959 MedGen:CN225187;MedGen:CN228654,OMIM:616268 8 41937491 41937492 AG - 178417 single nucleotide variant NM_006766.4(KAT6A):c.3385C>T (p.Arg1129Ter) 786200960 MedGen:CN225587;MedGen:CN228654,OMIM:616268;MedGen:CN221809 8 41934835 41934835 G A 178417 single nucleotide variant NM_006766.4(KAT6A):c.3385C>T (p.Arg1129Ter) 786200960 MedGen:CN225587;MedGen:CN228654,OMIM:616268;MedGen:CN221809 8 41792353 41792353 G A 178418 single nucleotide variant NM_006766.4(KAT6A):c.3070C>T (p.Arg1024Ter) 786200961 MedGen:CN225587;MedGen:CN228654,OMIM:616268 8 41937538 41937538 G A 178418 single nucleotide variant NM_006766.4(KAT6A):c.3070C>T (p.Arg1024Ter) 786200961 MedGen:CN225587;MedGen:CN228654,OMIM:616268 8 41795056 41795056 G A 178847 duplication NM_006766.4(KAT6A):c.3879dupA (p.Glu1294Argfs) 786200952 MedGen:CN225187;MedGen:CN228654,OMIM:616268 8 41934341 41934341 T TT 178847 duplication NM_006766.4(KAT6A):c.3879dupA (p.Glu1294Argfs) 786200952 MedGen:CN225187;MedGen:CN228654,OMIM:616268 8 41791859 41791859 T TT 260442 single nucleotide variant NM_006766.4(KAT6A):c.5525C>G (p.Thr1842Arg) 886037914 MedGen:CN228654,OMIM:616268 8 41790213 41790213 G C 260442 single nucleotide variant NM_006766.4(KAT6A):c.5525C>G (p.Thr1842Arg) 886037914 MedGen:CN228654,OMIM:616268 8 41932695 41932695 G C 264264 single nucleotide variant NM_006766.4(KAT6A):c.3661G>T (p.Glu1221Ter) 139494583 MedGen:CN221809 8 41792077 41792077 C A 264264 single nucleotide variant NM_006766.4(KAT6A):c.3661G>T (p.Glu1221Ter) 139494583 MedGen:CN221809 8 41934559 41934559 C A 264358 single nucleotide variant NM_006766.4(KAT6A):c.3553C>T (p.Gln1185Ter) 374290942 MedGen:CN221809 8 41792185 41792185 G A 264358 single nucleotide variant NM_006766.4(KAT6A):c.3553C>T (p.Gln1185Ter) 374290942 MedGen:CN221809 8 41934667 41934667 G A 264360 single nucleotide variant NM_006766.4(KAT6A):c.3182T>G (p.Leu1061Ter) 886041825 MedGen:CN221809 8 41794944 41794944 A C 264360 single nucleotide variant NM_006766.4(KAT6A):c.3182T>G (p.Leu1061Ter) 886041825 MedGen:CN221809 8 41937426 41937426 A C 264377 deletion NM_006766.4(KAT6A):c.5546_5555delTGCCAGTGAA (p.Met1849Argfs) 886041480 MedGen:CN221809 8 41790183 41790192 TTCACTGGCA - 264377 deletion NM_006766.4(KAT6A):c.5546_5555delTGCCAGTGAA (p.Met1849Argfs) 886041480 MedGen:CN221809 8 41932665 41932674 TTCACTGGCA - 264380 single nucleotide variant NM_006766.4(KAT6A):c.3505C>T (p.Arg1169Ter) 886042000 MedGen:CN228654,OMIM:616268;MedGen:CN221809 8 41792233 41792233 G A 264380 single nucleotide variant NM_006766.4(KAT6A):c.3505C>T (p.Arg1169Ter) 886042000 MedGen:CN228654,OMIM:616268;MedGen:CN221809 8 41934715 41934715 G A 264382 duplication NM_006766.4(KAT6A):c.3432dupA (p.Pro1145Thrfs) 886041731 MedGen:CN221809 8 41792306 41792306 T TT 264382 duplication NM_006766.4(KAT6A):c.3432dupA (p.Pro1145Thrfs) 886041731 MedGen:CN221809 8 41934788 41934788 T TT 264401 duplication NM_006766.4(KAT6A):c.1536dupT (p.Glu513Terfs) 886041809 MedGen:CN221809 8 41812876 41812876 A AA 264401 duplication NM_006766.4(KAT6A):c.1536dupT (p.Glu513Terfs) 886041809 MedGen:CN221809 8 41955358 41955358 A AA 353897 deletion NM_006766.4(KAT6A):c.4254_4257delTGAG (p.Glu1419Trpfs) 1057516049 MedGen:CN228654,OMIM:616268 8 41791481 41791484 CTCA - 353897 deletion NM_006766.4(KAT6A):c.4254_4257delTGAG (p.Glu1419Trpfs) 1057516049 MedGen:CN228654,OMIM:616268 8 41933963 41933966 CTCA - 359702 single nucleotide variant NM_006766.4(KAT6A):c.247C>T (p.Pro83Ser) 1057518385 MedGen:CN169374 8 42048731 42048731 G A 359702 single nucleotide variant NM_006766.4(KAT6A):c.247C>T (p.Pro83Ser) 1057518385 MedGen:CN169374 8 41906249 41906249 G A 359737 duplication NM_006766.4(KAT6A):c.4210dupG (p.Glu1404Glyfs) 1057518543 MedGen:CN221809 8 41934010 41934010 C CC 359737 duplication NM_006766.4(KAT6A):c.4210dupG (p.Glu1404Glyfs) 1057518543 MedGen:CN221809 8 41791528 41791528 C CC

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 8 41874591 rs10092480 A T rs10092480 0.0007109 INFLIXIMAB|ADALIMUMAB|IMMUNOGLOBULIN G TUMOR NECROSIS FACTOR-ALPHA|ANTIRHEUMATIC AGENTS|ANTIBODIES, MONOCLONAL, HUMANIZED|TNFR-FC FUSION PROTEIN|ANTIBODIES, MONOCLONAL|RECEPTORS, TUMOR NECROSIS FACTOR Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 A intron GWASdb_drug 8 41874591 rs10092480 A T rs10092480 7.11E-04 LEUCOVORIN|METHOTREXATE SLCO1B1 PROTEIN, HUMAN|ORGANIC ANION TRANSPORTERS Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 A intron GWASdb_drug 8 41878427 rs7845738 T G rs7845738 0.0006882 INFLIXIMAB|ADALIMUMAB|IMMUNOGLOBULIN G TUMOR NECROSIS FACTOR-ALPHA|ANTIRHEUMATIC AGENTS|ANTIBODIES, MONOCLONAL, HUMANIZED|TNFR-FC FUSION PROTEIN|ANTIBODIES, MONOCLONAL|RECEPTORS, TUMOR NECROSIS FACTOR Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 T intron GWASdb_drug 8 41878427 rs7845738 T G rs7845738 6.88E-04 LEUCOVORIN|METHOTREXATE SLCO1B1 PROTEIN, HUMAN|ORGANIC ANION TRANSPORTERS Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 T intron GWASdb_drug 8 41874591 rs10092480 A T rs10092480 0.0007109 Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 A intron GWASdb_trait 8 41874591 rs10092480 A T rs10092480 7.11E-04 Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 A intron GWASdb_trait 8 41878427 rs7845738 T G rs7845738 0.0006882 Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 T intron GWASdb_trait 8 41878427 rs7845738 T G rs7845738 6.88E-04 Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 T intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000083168.9 KAT6A 601408