Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 165650 indel NM_024735.4(FBXO31):c.847_852delTGCCTGinsA (p.Cys283Asnfs) 587777703 MedGen:CN219207,OMIM:615979 16 87369054 87369059 CAGGCA T 165650 indel NM_024735.4(FBXO31):c.847_852delTGCCTGinsA (p.Cys283Asnfs) 587777703 MedGen:CN219207,OMIM:615979 16 87335448 87335453 CAGGCA 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 16 87364650 rs1062746 T C rs1062746 2.00E-06 STAVUDINE|LAMIVUDINE|ZIDOVUDINE DRUG COMBINATIONS|LAMIVUDINE, ZIDOVUDINE DRUG COMBINATION|ANTI-HIV AGENTS Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 2 peripheral neuropathy) HPOID:0002721 DOID:526 A UTR-3 GWASdb_drug 16 87386375 rs11117267 T C rs11117267 0.0006915 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 16 87386375 rs11117267 T C rs11117267 6.92E-04 LEUCOVORIN|METHOTREXATE SLCO1B1 PROTEIN, HUMAN|ORGANIC ANION TRANSPORTERS Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 T intron GWASdb_drug 16 87386517 rs10779242 A G rs10779242 0.000623 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 G intron GWASdb_drug 16 87386517 rs10779242 A G rs10779242 6.23E-04 LEUCOVORIN|METHOTREXATE SLCO1B1 PROTEIN, HUMAN|ORGANIC ANION TRANSPORTERS Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 G intron GWASdb_drug 16 87386754 rs10779243 A G rs10779243 0.00068 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 16 87386754 rs10779243 A G rs10779243 6.80E-04 LEUCOVORIN|METHOTREXATE SLCO1B1 PROTEIN, HUMAN|ORGANIC ANION TRANSPORTERS Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 A intron GWASdb_drug 16 87387765 rs8043667 A T rs8043667 0.0008387 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 16 87387765 rs8043667 A T rs8043667 8.39E-04 LEUCOVORIN|METHOTREXATE SLCO1B1 PROTEIN, HUMAN|ORGANIC ANION TRANSPORTERS Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 T intron GWASdb_drug 16 87389001 rs11646004 C T rs11646004 0.0007415 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 C intron GWASdb_drug 16 87389001 rs11646004 C T rs11646004 7.42E-04 LEUCOVORIN|METHOTREXATE SLCO1B1 PROTEIN, HUMAN|ORGANIC ANION TRANSPORTERS Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 C intron GWASdb_drug 16 87409266 rs11645617 T C rs11645617 0.0008598 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 C intron GWASdb_drug 16 87409266 rs11645617 T C rs11645617 8.60E-04 LEUCOVORIN|METHOTREXATE SLCO1B1 PROTEIN, HUMAN|ORGANIC ANION TRANSPORTERS Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 C intron GWASdb_drug 16 87409288 rs11649260 G A rs11649260 0.0008565 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 G intron GWASdb_drug 16 87409288 rs11649260 G A rs11649260 8.57E-04 LEUCOVORIN|METHOTREXATE SLCO1B1 PROTEIN, HUMAN|ORGANIC ANION TRANSPORTERS Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 G intron GWASdb_drug 16 87415250 rs933717 T C rs933717 0.0009996 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 16 87420182 rs8054103 G A rs8054103 0.000916 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 G intron GWASdb_drug 16 87420182 rs8054103 G A rs8054103 9.16E-04 LEUCOVORIN|METHOTREXATE SLCO1B1 PROTEIN, HUMAN|ORGANIC ANION TRANSPORTERS Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 G intron GWASdb_drug 16 87364650 rs1062746 T C rs1062746 2.00E-06 Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 2 peripheral neuropathy) HPOID:0002721 DOID:526 A UTR-3 GWASdb_trait 16 87386375 rs11117267 T C rs11117267 0.0006915 Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 T intron GWASdb_trait 16 87386375 rs11117267 T C rs11117267 6.92E-04 Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 T intron GWASdb_trait 16 87386517 rs10779242 A G rs10779242 0.000623 Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 G intron GWASdb_trait 16 87386517 rs10779242 A G rs10779242 6.23E-04 Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 G intron GWASdb_trait 16 87386754 rs10779243 A G rs10779243 0.00068 Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 A intron GWASdb_trait 16 87386754 rs10779243 A G rs10779243 6.80E-04 Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 A intron GWASdb_trait 16 87387765 rs8043667 A T rs8043667 0.0008387 Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 T intron GWASdb_trait 16 87387765 rs8043667 A T rs8043667 8.39E-04 Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 T intron GWASdb_trait 16 87389001 rs11646004 C T rs11646004 0.0007415 Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 C intron GWASdb_trait 16 87389001 rs11646004 C T rs11646004 7.42E-04 Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 C intron GWASdb_trait 16 87394386 rs1834022 A G rs1834022 0.00044 Prostate cancer HPOID:0012125 DOID:10283 T intron GWASdb_trait 16 87409266 rs11645617 T C rs11645617 0.0008598 Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 C intron GWASdb_trait 16 87409266 rs11645617 T C rs11645617 8.60E-04 Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 C intron GWASdb_trait 16 87409288 rs11649260 G A rs11649260 0.0008565 Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 G intron GWASdb_trait 16 87409288 rs11649260 G A rs11649260 8.57E-04 Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 G intron GWASdb_trait 16 87420182 rs8054103 G A rs8054103 9.16E-04 Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 G intron GWASdb_trait 16 87420769 rs750956 G A rs750956 9.24E-05 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000103264.16 FBXO31 609102