Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 138121 single nucleotide variant NM_033632.3(FBXW7):c.397A>G (p.Arg133Gly) 6842544 MedGen:CN169374 4 152411407 152411407 T C 138118 single nucleotide variant NM_001013415.1(FBXW7):c.134T>G (p.Phe45Cys) 576143888 MedGen:CN169374 4 153303354 153303354 A C 138118 single nucleotide variant NM_001013415.1(FBXW7):c.134T>G (p.Phe45Cys) 576143888 MedGen:CN169374 4 152382202 152382202 A C 138119 single nucleotide variant NM_018315.4(FBXW7):c.170G>A (p.Ser57Asn) 537589828 MedGen:CN169374 4 153273713 153273713 C T 138119 single nucleotide variant NM_018315.4(FBXW7):c.170G>A (p.Ser57Asn) 537589828 MedGen:CN169374 4 152352561 152352561 C T 138120 insertion NM_033632.3(FBXW7):c.45_46insCCT (p.Thr15_Gly16insPro) 541979458 MedGen:CN169374 4 153332910 153332911 - AGG 138120 insertion NM_033632.3(FBXW7):c.45_46insCCT (p.Thr15_Gly16insPro) 541979458 MedGen:CN169374 4 152411758 152411759 - AGG 138121 single nucleotide variant NM_033632.3(FBXW7):c.397A>G (p.Arg133Gly) 6842544 MedGen:CN169374 4 153332559 153332559 T C 138122 single nucleotide variant NM_033632.3(FBXW7):c.58A>G (p.Arg20Gly) 115679616 MedGen:CN169374 4 153332898 153332898 T C 138122 single nucleotide variant NM_033632.3(FBXW7):c.58A>G (p.Arg20Gly) 115679616 MedGen:CN169374 4 152411746 152411746 T C 138123 single nucleotide variant NM_033632.3(FBXW7):c.458C>G (p.Pro153Arg) 587778350 MedGen:CN169374 4 153332498 153332498 G C 138123 single nucleotide variant NM_033632.3(FBXW7):c.458C>G (p.Pro153Arg) 587778350 MedGen:CN169374 4 152411346 152411346 G C 138124 single nucleotide variant NM_033632.3(FBXW7):c.479C>T (p.Pro160Leu) 147025249 MedGen:CN169374 4 153332477 153332477 G A 138124 single nucleotide variant NM_033632.3(FBXW7):c.479C>T (p.Pro160Leu) 147025249 MedGen:CN169374 4 152411325 152411325 G A

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 4 153252061 rs10033601 A G rs10033601 1.84E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 4 153265507 rs2676330 T C rs2676330 6.87E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 A intron GWASdb_trait 4 153275395 rs2676329 C T rs2676329 9.61E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 G intron GWASdb_trait 4 153275701 rs2203644 T C rs2203644 8.81E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 A intron GWASdb_trait 4 153291513 rs11931711 C T rs11931711 6.21E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 C intron GWASdb_trait 4 153291513 rs11931711 C T rs11931711 3.23E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 4 153301216 rs7673175 T C rs7673175 7.11E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T intron GWASdb_trait 4 153301216 rs7673175 T C rs7673175 6.12E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 4 153330301 rs1516822 T C rs1516822 9.17E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 4 153342645 rs4696321 T C rs4696321 8.84E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T intron GWASdb_trait 4 153342645 rs4696321 T C rs4696321 6.71E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 4 153367257 rs2406375 T C rs2406375 9.62E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 4 153371764 rs10031972 A G rs10031972 2.60E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 4 153373680 rs2628570 G T rs2628570 2.83E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 4 153380801 rs1516820 T C rs1516820 2.25E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 4 153397823 rs7660590 C T rs7660590 9.65E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 4 153410390 rs10021011 C A rs10021011 6.74E-05 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 4 153411843 rs9991574 T C rs9991574 7.02E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 4 153412394 rs718089 A G rs718089 2.84E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 4 153415654 rs17028932 T C rs17028932 3.16E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 4 153425449 rs6535851 C T rs6535851 7.96E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T intron GWASdb_trait 4 153425449 rs6535851 C T rs6535851 2.45E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 4 153433451 rs1516819 A C rs1516819 5.24E-05 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 4 153438333 rs17028954 C G rs17028954 7.27E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 4 153450360 rs6816962 G T rs6816962 9.54E-05 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 4 153451356 rs1023962 T G rs1023962 1.40E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 4 153455628 rs1484879 A G rs1484879 1.64E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000109670.13 FBXW7 606278