Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 171488 single nucleotide variant NM_032807.4(FBXO18):c.2260C>T (p.Arg754Trp) 193921138 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 10 5921264 5921264 C T 171488 single nucleotide variant NM_032807.4(FBXO18):c.2260C>T (p.Arg754Trp) 193921138 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 10 5963227 5963227 C 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 10 5944233 rs6602330 T C rs6602330 7.06E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 T intron GWASdb_drug 10 5944233 rs6602330 T C rs6602330 7.06E-04 Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 T intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000134452.19 FBXO18 607222