Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 199839 single nucleotide variant NM_017999.4(RNF31):c.215T>C (p.Leu72Pro) 794729666 MedGen:CN221809 14 24617207 24617207 T C 199839 single nucleotide variant NM_017999.4(RNF31):c.215T>C (p.Leu72Pro) 794729666 MedGen:CN221809 14 24147998 24147998 T C

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 14 24618859 rs743272 A G rs743272 1.26E-04 Schizophrenia HPOID:0100753 DOID:5419 T intron GWASdb_trait 14 24618859 rs743272 A G rs743272 9.00E-04 Acute lymphoblastic leukemia (childhood) HPOID:0006721 DOID:9952|DOID:12603 T intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000092098.16 RNF31 612487