Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 97430 single nucleotide variant NM_003610.3(RAE1):c.408C>G (p.Ile136Met) 386352355 MedGen:CN221809 20 55941895 55941895 C G 97430 single nucleotide variant NM_003610.3(RAE1):c.408C>G (p.Ile136Met) 386352355 MedGen:CN221809 20 57366839 57366839 C 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 20 55932607 rs4811839 T G rs4811839 9.53E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 G intron GWASdb_drug 20 55936882 rs2426708 A G rs2426708 9.53E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 A intron GWASdb_drug 20 55952187 rs911901 A G rs911901 6.20E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 A intron GWASdb_drug 20 55929881 rs4811837 T C rs4811837 4.49E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 20 55932607 rs4811839 T G rs4811839 9.53E-04 Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 G intron GWASdb_trait 20 55936882 rs2426708 A G rs2426708 9.53E-04 Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 A intron GWASdb_trait 20 55940921 rs6025517 T C rs6025517 5.88E-04 Rheumatoid arthritis HPOID:0001370 DOID:7148 T intron GWASdb_trait 20 55952187 rs911901 A G rs911901 6.20E-04 Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000101146.12 RAE1 603343