Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 19847 single nucleotide variant NM_012179.3(FBXO7):c.1132C>G (p.Arg378Gly) 71799110 MedGen:C1850100,OMIM:260300 22 32889256 32889256 C G 19847 single nucleotide variant NM_012179.3(FBXO7):c.1132C>G (p.Arg378Gly) 71799110 MedGen:C1850100,OMIM:260300 22 32493269 32493269 C G 19848 single nucleotide variant NM_012179.3(FBXO7):c.1492C>T (p.Arg498Ter) 121918304 MedGen:C1850100,OMIM:260300 22 32894440 32894440 C T 19848 single nucleotide variant NM_012179.3(FBXO7):c.1492C>T (p.Arg498Ter) 121918304 MedGen:C1850100,OMIM:260300 22 32498453 32498453 C T 19849 single nucleotide variant NM_012179.3(FBXO7):c.1144+1G>T 730880272 MedGen:C1850100,OMIM:260300 22 32889269 32889269 G T 19849 single nucleotide variant NM_012179.3(FBXO7):c.1144+1G>T 730880272 MedGen:C1850100,OMIM:260300 22 32493282 32493282 G T 19850 single nucleotide variant NM_012179.3(FBXO7):c.65C>T (p.Thr22Met) 121918305 MedGen:C1850100,OMIM:260300 22 32871054 32871054 C T 19850 single nucleotide variant NM_012179.3(FBXO7):c.65C>T (p.Thr22Met) 121918305 MedGen:C1850100,OMIM:260300 22 32475067 32475067 C T 192436 single nucleotide variant NM_012179.3(FBXO7):c.345G>A (p.Met115Ile) 11107 MedGen:CN239372;MedGen:CN169374 22 32875190 32875190 G A 192436 single nucleotide variant NM_012179.3(FBXO7):c.345G>A (p.Met115Ile) 11107 MedGen:CN239372;MedGen:CN169374 22 32479203 32479203 G A 337898 single nucleotide variant NM_012179.3(FBXO7):c.-232G>C 886057414 MedGen:CN239372 22 32474771 32474771 G C 337898 single nucleotide variant NM_012179.3(FBXO7):c.-232G>C 886057414 MedGen:CN239372 22 32870758 32870758 G C 337905 single nucleotide variant NM_012179.3(FBXO7):c.-93G>A 886057419 MedGen:CN239372 22 32474910 32474910 G A 337905 single nucleotide variant NM_012179.3(FBXO7):c.-93G>A 886057419 MedGen:CN239372 22 32870897 32870897 G A 337906 single nucleotide variant NM_012179.3(FBXO7):c.745A>G (p.Thr249Ala) 749742547 MedGen:CN239372 22 32485167 32485167 A G 337906 single nucleotide variant NM_012179.3(FBXO7):c.745A>G (p.Thr249Ala) 749742547 MedGen:CN239372 22 32881154 32881154 A G 337907 single nucleotide variant NM_012179.3(FBXO7):c.1144+9C>T 199954341 MedGen:CN239372 22 32889277 32889277 C T 337907 single nucleotide variant NM_012179.3(FBXO7):c.1144+9C>T 199954341 MedGen:CN239372 22 32493290 32493290 C T 337910 single nucleotide variant NM_012179.3(FBXO7):c.1505A>G (p.Asn502Ser) 144538200 MedGen:CN239372 22 32894453 32894453 A G 337910 single nucleotide variant NM_012179.3(FBXO7):c.1505A>G (p.Asn502Ser) 144538200 MedGen:CN239372 22 32498466 32498466 A G 337913 single nucleotide variant NM_012179.3(FBXO7):c.*47A>T 367714958 MedGen:CN239372 22 32894564 32894564 A T 337913 single nucleotide variant NM_012179.3(FBXO7):c.*47A>T 367714958 MedGen:CN239372 22 32498577 32498577 A T 347509 single nucleotide variant NM_012179.3(FBXO7):c.-268C>G 540551581 MedGen:CN239372 22 32474735 32474735 C G 347509 single nucleotide variant NM_012179.3(FBXO7):c.-268C>G 540551581 MedGen:CN239372 22 32870722 32870722 C G 347512 single nucleotide variant NM_012179.3(FBXO7):c.-197C>T 886057416 MedGen:CN239372 22 32474806 32474806 C T 347512 single nucleotide variant NM_012179.3(FBXO7):c.-197C>T 886057416 MedGen:CN239372 22 32870793 32870793 C T 347516 single nucleotide variant NM_012179.3(FBXO7):c.-184C>T 11538371 MedGen:CN239372 22 32474819 32474819 C T 347516 single nucleotide variant NM_012179.3(FBXO7):c.-184C>T 11538371 MedGen:CN239372 22 32870806 32870806 C T 347518 single nucleotide variant NM_012179.3(FBXO7):c.49C>G (p.Pro17Ala) 886057420 MedGen:CN239372 22 32475051 32475051 C G 347518 single nucleotide variant NM_012179.3(FBXO7):c.49C>G (p.Pro17Ala) 886057420 MedGen:CN239372 22 32871038 32871038 C G 347519 single nucleotide variant NM_012179.3(FBXO7):c.122+9G>A 192327462 MedGen:CN239372 22 32475133 32475133 G A 347519 single nucleotide variant NM_012179.3(FBXO7):c.122+9G>A 192327462 MedGen:CN239372 22 32871120 32871120 G A 347522 single nucleotide variant NM_012179.3(FBXO7):c.274G>C (p.Asp92His) 139135860 MedGen:CN239372 22 32479132 32479132 G C 347522 single nucleotide variant NM_012179.3(FBXO7):c.274G>C (p.Asp92His) 139135860 MedGen:CN239372 22 32875119 32875119 G C 347523 single nucleotide variant NM_012179.3(FBXO7):c.949C>T (p.Leu317=) 9726 MedGen:CN239372 22 32491163 32491163 C T 347523 single nucleotide variant NM_012179.3(FBXO7):c.949C>T (p.Leu317=) 9726 MedGen:CN239372 22 32887150 32887150 C T 351415 single nucleotide variant NM_012179.3(FBXO7):c.-200G>A 886057415 MedGen:CN239372 22 32474803 32474803 G A 351415 single nucleotide variant NM_012179.3(FBXO7):c.-200G>A 886057415 MedGen:CN239372 22 32870790 32870790 G A 351419 single nucleotide variant NM_012179.3(FBXO7):c.-168A>G 886057417 MedGen:CN239372 22 32870822 32870822 A G 351419 single nucleotide variant NM_012179.3(FBXO7):c.-168A>G 886057417 MedGen:CN239372 22 32474835 32474835 A G 351420 single nucleotide variant NM_012179.3(FBXO7):c.358C>T (p.Pro120Ser) 191469599 MedGen:CN239372 22 32875203 32875203 C T 351420 single nucleotide variant NM_012179.3(FBXO7):c.358C>T (p.Pro120Ser) 191469599 MedGen:CN239372 22 32479216 32479216 C T 351422 single nucleotide variant NM_012179.3(FBXO7):c.425C>G (p.Pro142Arg) 886057421 MedGen:CN239372 22 32483904 32483904 C G 351422 single nucleotide variant NM_012179.3(FBXO7):c.425C>G (p.Pro142Arg) 886057421 MedGen:CN239372 22 32879891 32879891 C G 351423 single nucleotide variant NM_012179.3(FBXO7):c.540A>G (p.Pro180=) 41311141 MedGen:CN239372 22 32484019 32484019 A G 351423 single nucleotide variant NM_012179.3(FBXO7):c.540A>G (p.Pro180=) 41311141 MedGen:CN239372 22 32880006 32880006 A G 351426 single nucleotide variant NM_012179.3(FBXO7):c.1125A>G (p.Leu375=) 147911892 MedGen:CN239372 22 32889249 32889249 A G 351426 single nucleotide variant NM_012179.3(FBXO7):c.1125A>G (p.Leu375=) 147911892 MedGen:CN239372 22 32493262 32493262 A G 351428 single nucleotide variant NM_012179.3(FBXO7):c.*263A>G 886057422 MedGen:CN239372 22 32894780 32894780 A G 351428 single nucleotide variant NM_012179.3(FBXO7):c.*263A>G 886057422 MedGen:CN239372 22 32498793 32498793 A G 352418 single nucleotide variant NM_012179.3(FBXO7):c.-221C>T 2072814 MedGen:CN239372 22 32474782 32474782 C T 352418 single nucleotide variant NM_012179.3(FBXO7):c.-221C>T 2072814 MedGen:CN239372 22 32870769 32870769 C T 352419 single nucleotide variant NM_012179.3(FBXO7):c.-118T>G 886057418 MedGen:CN239372 22 32474885 32474885 T G 352419 single nucleotide variant NM_012179.3(FBXO7):c.-118T>G 886057418 MedGen:CN239372 22 32870872 32870872 T G 352420 single nucleotide variant NM_012179.3(FBXO7):c.693C>T (p.Ser231=) 61752254 MedGen:CN239372 22 32485115 32485115 C T 352420 single nucleotide variant NM_012179.3(FBXO7):c.693C>T (p.Ser231=) 61752254 MedGen:CN239372 22 32881102 32881102 C T 352421 single nucleotide variant NM_012179.3(FBXO7):c.1054G>A (p.Val352Ile) 762037477 MedGen:CN239372 22 32493191 32493191 G A 352421 single nucleotide variant NM_012179.3(FBXO7):c.1054G>A (p.Val352Ile) 762037477 MedGen:CN239372 22 32889178 32889178 G A 352434 single nucleotide variant NM_012179.3(FBXO7):c.*282A>T 886057423 MedGen:CN239372 22 32498812 32498812 A T 352426 single nucleotide variant NM_012179.3(FBXO7):c.1527C>A (p.Pro509=) 758609287 MedGen:CN239372 22 32894475 32894475 C A 352426 single nucleotide variant NM_012179.3(FBXO7):c.1527C>A (p.Pro509=) 758609287 MedGen:CN239372 22 32498488 32498488 C A 352433 single nucleotide variant NM_012179.3(FBXO7):c.*170C>G 186797068 MedGen:CN239372 22 32894687 32894687 C G 352433 single nucleotide variant NM_012179.3(FBXO7):c.*170C>G 186797068 MedGen:CN239372 22 32498700 32498700 C G 352434 single nucleotide variant NM_012179.3(FBXO7):c.*282A>T 886057423 MedGen:CN239372 22 32894799 32894799 A T 352435 single nucleotide variant NM_012179.3(FBXO7):c.*301A>G 757675819 MedGen:CN239372 22 32894818 32894818 A G 352435 single nucleotide variant NM_012179.3(FBXO7):c.*301A>G 757675819 MedGen:CN239372 22 32498831 32498831 A G

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 22 32878244 rs5754110 T C rs5754110 9.02E-05 NICOTINE|BUPROPION NICOTINIC AGONISTS|ANTIDEPRESSIVE AGENTS, SECOND-GENERATION Smoking cessation HPOID:0000707 DOID:0050742 C intron GWASdb_drug 22 32885780 rs2267179 C T rs2267179 6.21E-05 NICOTINE|BUPROPION NICOTINIC AGONISTS|ANTIDEPRESSIVE AGENTS, SECOND-GENERATION Smoking cessation HPOID:0000707 DOID:0050742 C intron GWASdb_drug 22 32886785 rs738981 C T rs738981 1.87E-05 NICOTINE|BUPROPION NICOTINIC AGONISTS|ANTIDEPRESSIVE AGENTS, SECOND-GENERATION Smoking cessation HPOID:0000707 DOID:0050742 T,C intron GWASdb_drug 22 32891690 rs5749452 T C rs5749452 2.88E-04 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 T intron GWASdb_drug 22 32891690 rs5749452 T C rs5749452 0.0007686 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 22 32891690 rs5749452 T C rs5749452 7.69E-04 LEUCOVORIN|METHOTREXATE SLCO1B1 PROTEIN, HUMAN|ORGANIC ANION TRANSPORTERS Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 T intron GWASdb_drug 22 32871442 rs8140067 C A rs8140067 3.42E-11 Red blood cell traits HPOID:0001877 DOID:74 A intron GWASdb_trait 22 32872258 rs5749445 A C rs5749445 1.91E-10 Red blood cell traits HPOID:0001877 DOID:74 A intron GWASdb_trait 22 32872593 rs5754109 G A rs5754109 6.04E-13 Red blood cell traits HPOID:0001877 DOID:74 A intron GWASdb_trait 22 32873127 rs2142718 G C rs2142718 5.61E-08 Red blood cell traits HPOID:0001877 DOID:74 C intron GWASdb_trait 22 32873496 rs7291067 C A rs7291067 4.98E-08 Red blood cell traits HPOID:0001877 DOID:74 A intron GWASdb_trait 22 32874258 rs738264 G T rs738264 1.99E-10 Red blood cell traits HPOID:0001877 DOID:74 G intron GWASdb_trait 22 32874449 rs738265 G A rs738265 2.97E-10 Red blood cell traits HPOID:0001877 DOID:74 A intron GWASdb_trait 22 32874551 rs2247590 A G rs2247590 4.17E-09 Red blood cell traits HPOID:0001877 DOID:74 G intron GWASdb_trait 22 32875190 rs11107 G A rs11107 0.000000003 Mean corpuscular volume HPOID:0001877 DOID:74 C missense GWASdb_trait 22 32875871 rs715542 G A rs715542 3.54E-10 Red blood cell traits HPOID:0001877 DOID:74 G intron GWASdb_trait 22 32876647 rs1033407 C A rs1033407 9.18E-10 Red blood cell traits HPOID:0001877 DOID:74 A intron GWASdb_trait 22 32877009 rs715567 T A rs715567 3.58E-13 Red blood cell traits HPOID:0001877 DOID:74 T intron GWASdb_trait 22 32878244 rs5754110 T C rs5754110 9.02E-05 Smoking cessation HPOID:0000707 DOID:0050742 C intron GWASdb_trait 22 32878244 rs5754110 T C rs5754110 6.05E-12 Red blood cell traits HPOID:0001877 DOID:74 C intron GWASdb_trait 22 32878510 rs9609567 C T rs9609567 3.75E-09 Red blood cell traits HPOID:0001877 DOID:74 C intron GWASdb_trait 22 32879317 rs6518785 T A rs6518785 5.28E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 22 32879617 rs4820079 G T rs4820079 7.55E-08 Red blood cell traits HPOID:0001877 DOID:74 T intron GWASdb_trait 22 32880585 rs5749446 T C rs5749446 3.00E-13 Red blood cell traits HPOID:0001877 DOID:74 C intron GWASdb_trait 22 32881581 rs17771806 C T rs17771806 1.50E-05 Urinary metabolites HPOID:0000079 DOID:557 C intron GWASdb_trait 22 32881600 rs9609570 C T rs9609570 6.43E-09 Red blood cell traits HPOID:0001877 DOID:74 C intron GWASdb_trait 22 32881746 rs5754111 G A rs5754111 5.84E-10 Red blood cell traits HPOID:0001877 DOID:74 A intron GWASdb_trait 22 32882121 rs5749447 G A rs5749447 2.06E-10 Red blood cell traits HPOID:0001877 DOID:74 G intron GWASdb_trait 22 32882808 rs3788448 A G rs3788448 4.27E-11 Red blood cell traits HPOID:0001877 DOID:74 A intron GWASdb_trait 22 32883103 rs3788449 G A rs3788449 3.23E-10 Red blood cell traits HPOID:0001877 DOID:74 A intron GWASdb_trait 22 32883128 rs3788450 G A rs3788450 1.33E-12 Red blood cell traits HPOID:0001877 DOID:74 G intron GWASdb_trait 22 32883282 rs3827335 A G rs3827335 4.18E-09 Red blood cell traits HPOID:0001877 DOID:74 G intron GWASdb_trait 22 32883344 rs4821066 A G rs4821066 3.71E-09 Red blood cell traits HPOID:0001877 DOID:74 G intron GWASdb_trait 22 32884036 rs5998513 T A rs5998513 3.07E-10 Red blood cell traits HPOID:0001877 DOID:74 A intron GWASdb_trait 22 32884381 rs7354804 C T rs7354804 1.60E-10 Red blood cell traits HPOID:0001877 DOID:74 T intron GWASdb_trait 22 32885549 rs2267178 C T rs2267178 2.30E-10 Red blood cell traits HPOID:0001877 DOID:74 T intron GWASdb_trait 22 32885780 rs2267179 C T rs2267179 6.21E-05 Smoking cessation HPOID:0000707 DOID:0050742 C intron GWASdb_trait 22 32885780 rs2267179 C T rs2267179 3.65E-10 Red blood cell traits HPOID:0001877 DOID:74 C intron GWASdb_trait 22 32886477 rs5749450 G T rs5749450 0.00000003 Mean corpuscular volume HPOID:0001877 DOID:74 T intron GWASdb_trait 22 32886477 rs5749450 G T rs5749450 1.58E-07 Red blood cell traits HPOID:0001877 DOID:74 T intron GWASdb_trait 22 32886785 rs738981 C T rs738981 1.87E-05 Smoking cessation HPOID:0000707 DOID:0050742 T,C intron GWASdb_trait 22 32886785 rs738981 C T rs738981 2.28E-10 Red blood cell traits HPOID:0001877 DOID:74 T,C intron GWASdb_trait 22 32886998 rs738982 T C rs738982 4.79E-12 Red blood cell traits HPOID:0001877 DOID:74 T intron GWASdb_trait 22 32887150 rs9726 C T rs9726 4.84E-10 Red blood cell traits HPOID:0001877 DOID:74 C cds-synon GWASdb_trait 22 32887498 rs6518786 T C rs6518786 6.43E-12 Red blood cell traits HPOID:0001877 DOID:74 T intron GWASdb_trait 22 32887661 rs17772071 A G rs17772071 4.79E-10 Red blood cell traits HPOID:0001877 DOID:74 A intron GWASdb_trait 22 32887732 rs17698823 C T rs17698823 9.28E-09 Red blood cell traits HPOID:0001877 DOID:74 T intron GWASdb_trait 22 32887782 rs1029298 A G rs1029298 4.12E-10 Red blood cell traits HPOID:0001877 DOID:74 G intron GWASdb_trait 22 32887949 rs1029299 T C rs1029299 3.97E-12 Red blood cell traits HPOID:0001877 DOID:74 T intron GWASdb_trait 22 32888622 rs1029302 A G rs1029302 7.49E-09 Red blood cell traits HPOID:0001877 DOID:74 G intron GWASdb_trait 22 32889815 rs7291957 A T rs7291957 1.19E-08 Red blood cell traits HPOID:0001877 DOID:74 T intron GWASdb_trait 22 32891690 rs5749452 T C rs5749452 2.88E-04 Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 T intron GWASdb_trait 22 32891690 rs5749452 T C rs5749452 0.0007686 Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 T intron GWASdb_trait 22 32891690 rs5749452 T C rs5749452 7.69E-04 Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 T intron GWASdb_trait 22 32891896 rs9609571 G C rs9609571 6.88E-12 Red blood cell traits HPOID:0001877 DOID:74 G intron GWASdb_trait 22 32893905 rs5754115 C T rs5754115 4.24E-09 Red blood cell traits HPOID:0001877 DOID:74 T intron GWASdb_trait 22 32893920 rs5754116 C T rs5754116 3.67E-10 Red blood cell traits HPOID:0001877 DOID:74 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000100225.17 FBXO7 605648