Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 181523 single nucleotide variant NM_017831.3(RNF125):c.336G>A (p.Met112Ile) 786201014 MedGen:CN228398,OMIM:616260 18 29622159 29622159 G A 181523 single nucleotide variant NM_017831.3(RNF125):c.336G>A (p.Met112Ile) 786201014 MedGen:CN228398,OMIM:616260 18 32042196 32042196 G A 181524 single nucleotide variant NM_017831.3(RNF125):c.488C>T (p.Ser163Leu) 373764886 MedGen:CN228398,OMIM:616260 18 32045716 32045716 C T 181524 single nucleotide variant NM_017831.3(RNF125):c.488C>T (p.Ser163Leu) 373764886 MedGen:CN228398,OMIM:616260 18 29625679 29625679 C T 181525 single nucleotide variant NM_017831.3(RNF125):c.520C>T (p.Arg174Cys) 370242930 MedGen:CN228398,OMIM:616260 18 32065917 32065917 C T 181525 single nucleotide variant NM_017831.3(RNF125):c.520C>T (p.Arg174Cys) 370242930 MedGen:CN228398,OMIM:616260 18 29645880 29645880 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 18 29606623 rs7226543 G C rs7226543 4.30E-05 Age-related macular degeneration HPOID:0007868 DOID:10871 G intron GWASdb_trait 18 29614986 rs8093813 T A rs8093813 1.40E-06 Urinary metabolites HPOID:0000079 DOID:557 G,A intron GWASdb_trait 18 29640430 rs336277 T C rs336277 7.52E-05 Myopia (severe) HPOID:0000545 DOID:11830 C intron GWASdb_trait 18 29647415 rs336281 G T rs336281 4.48E-04 Smoking initiation HPOID:0000707 DOID:0050742 T intron GWASdb_trait 18 29647869 rs8086733 G A rs8086733 1.06E-05 Hypertension HPOID:0000822 DOID:10763 A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000101695.8 RNF125 610432