Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 181374 indel NM_006063.2(KLHL41):c.459delTinsACTC (p.Ser153_Ala154insLeu) 730882257 MedGen:C3810384,OMIM:615731 2 170366747 170366747 T ACTC 181374 indel NM_006063.2(KLHL41):c.459delTinsACTC (p.Ser153_Ala154insLeu) 730882257 MedGen:C3810384,OMIM:615731 2 169510237 169510237 T ACTC 181375 deletion NM_006063.2(KLHL41):c.1748_1755delAGGAAATA (p.Lys583Thrfs) 730882258 MedGen:C3810384,OMIM:615731 2 170382133 170382140 AGGAAATA - 181375 deletion NM_006063.2(KLHL41):c.1748_1755delAGGAAATA (p.Lys583Thrfs) 730882258 MedGen:C3810384,OMIM:615731 2 169525623 169525630 AGGAAATA - 181376 deletion NM_006063.2(KLHL41):c.641delA (p.Asn214Thrfs) 730882235 MedGen:C0206157,Orphanet:ORPHA607,SNOMED CT:C0206157;MedGen:C3810384,OMIM:615731 2 170366929 170366929 A - 181376 deletion NM_006063.2(KLHL41):c.641delA (p.Asn214Thrfs) 730882235 MedGen:C0206157,Orphanet:ORPHA607,SNOMED CT:C0206157;MedGen:C3810384,OMIM:615731 2 169510419 169510419 A - 181377 deletion NM_006063.2(KLHL41):c.581_583delAAG (p.Glu194del) 730882259 MedGen:C3810384,OMIM:615731 2 170366869 170366871 AAG - 181377 deletion NM_006063.2(KLHL41):c.581_583delAAG (p.Glu194del) 730882259 MedGen:C3810384,OMIM:615731 2 169510359 169510361 AAG - 181378 single nucleotide variant NM_006063.2(KLHL41):c.1238C>T (p.Ser413Leu) 730882260 MedGen:C3810384,OMIM:615731 2 170371211 170371211 C T 181378 single nucleotide variant NM_006063.2(KLHL41):c.1238C>T (p.Ser413Leu) 730882260 MedGen:C3810384,OMIM:615731 2 169514701 169514701 C T 215225 single nucleotide variant NM_006063.2(KLHL41):c.1639A>G (p.Ile547Val) 864309595 MedGen:CN169374 2 169520937 169520937 A G 215225 single nucleotide variant NM_006063.2(KLHL41):c.1639A>G (p.Ile547Val) 864309595 MedGen:CN169374 2 170377447 170377447 A G 250390 single nucleotide variant NM_006063.2(KLHL41):c.8C>T (p.Ser3Phe) 28730867 MedGen:CN169374 2 170366296 170366296 C T 250390 single nucleotide variant NM_006063.2(KLHL41):c.8C>T (p.Ser3Phe) 28730867 MedGen:CN169374 2 169509786 169509786 C T 250391 single nucleotide variant NM_006063.2(KLHL41):c.811G>A (p.Ala271Thr) 28763868 MedGen:CN169374 2 170367099 170367099 G A 250391 single nucleotide variant NM_006063.2(KLHL41):c.811G>A (p.Ala271Thr) 28763868 MedGen:CN169374 2 169510589 169510589 G A 250392 single nucleotide variant NM_006063.2(KLHL41):c.863T>G (p.Leu288Arg) 139415849 MedGen:CN169374 2 169510641 169510641 T G 250392 single nucleotide variant NM_006063.2(KLHL41):c.863T>G (p.Leu288Arg) 139415849 MedGen:CN169374 2 170367151 170367151 T G 250393 single nucleotide variant NM_006063.2(KLHL41):c.1251A>G (p.Val417=) 79580851 MedGen:CN169374 2 170371224 170371224 A G 250393 single nucleotide variant NM_006063.2(KLHL41):c.1251A>G (p.Val417=) 79580851 MedGen:CN169374 2 169514714 169514714 A G 250394 single nucleotide variant NM_006063.2(KLHL41):c.1441A>G (p.Met481Val) 34623017 MedGen:CN169374 2 170374764 170374764 A G 250394 single nucleotide variant NM_006063.2(KLHL41):c.1441A>G (p.Met481Val) 34623017 MedGen:CN169374 2 169518254 169518254 A G 250395 single nucleotide variant NM_006063.2(KLHL41):c.1737T>C (p.Ala579=) 76875207 MedGen:CN169374 2 170382122 170382122 T C 250395 single nucleotide variant NM_006063.2(KLHL41):c.1737T>C (p.Ala579=) 76875207 MedGen:CN169374 2 169525612 169525612 T 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 2 170373591 rs13417370 G A rs13417370 0.0007219 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 2 170373591 rs13417370 G A rs13417370 7.22E-04 LEUCOVORIN|METHOTREXATE SLCO1B1 PROTEIN, HUMAN|ORGANIC ANION TRANSPORTERS Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 A intron GWASdb_drug 2 170370976 rs2293058 T C rs2293058 1.79E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T intron GWASdb_trait 2 170373591 rs13417370 G A rs13417370 0.0007219 Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 A intron GWASdb_trait 2 170373591 rs13417370 G A rs13417370 7.22E-04 Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000239474.6 KLHL41 607701