Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 221004 deletion NM_012161.3(FBXL5):c.1654delT (p.Cys552Valfs) 864622020 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 4 15627071 15627071 A - 221004 deletion NM_012161.3(FBXL5):c.1654delT (p.Cys552Valfs) 864622020 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 4 15625448 15625448 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 15623955 rs10008376 C T rs10008376 8.14E-05 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 4 15624770 rs7438356 C T rs7438356 2.22E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000118564.14 FBXL5 605655