Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 15774 single nucleotide variant NM_001131034.3(RNF212):c.172-4654T>C 3796619 MedGen:C2677576,OMIM:612042 4 1095281 1095281 A G 15774 single nucleotide variant NM_001131034.3(RNF212):c.172-4654T>C 3796619 MedGen:C2677576,OMIM:612042 4 1101493 1101493 A G 15775 single nucleotide variant NM_001131034.3(RNF212):c.362+1497C>T 1670533 MedGen:C2677576,OMIM:612042 4 1078187 1078187 G A 15775 single nucleotide variant NM_001131034.3(RNF212):c.362+1497C>T 1670533 MedGen:C2677576,OMIM:612042 4 1084399 1084399 G A 223052 single nucleotide variant NM_001131034.3(RNF212):c.314T>C (p.Leu105Ser) 869025240 MedGen:C1527349 4 1079732 1079732 A G 223052 single nucleotide variant NM_001131034.3(RNF212):c.314T>C (p.Leu105Ser) 869025240 MedGen:C1527349 4 1085944 1085944 A 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 4 1067249 rs2290409 T C rs2290409 1.45E-04 Glycosylated haemoglobin levels HPOID:0011902|HPOID:0000077|HPOID:0001626|HPOID:0000819|HPOID:0000479 DOID:1287|DOID:9351|DOID:557|DOID:5679 A intron GWASdb_trait 4 1067249 rs2290409 T C rs2290409 1.50E-05 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait 4 1067267 rs2290408 G T rs2290408 4.53E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 4 1068778 rs2014318 A G rs2014318 8.95E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 4 1068819 rs1010342 G A rs1010342 6.65E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 4 1068819 rs1010342 G A rs1010342 5.23E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 4 1068819 rs1010342 G A rs1010342 2.27E-04 Recombination rate HPOID:0000005 NA G intron GWASdb_trait 4 1078187 rs1670533 G A rs1670533 2.00E-12 Recombination rate (females) HPOID:0000005 NA T intron GWASdb_trait 4 1086871 rs11939380 T C rs11939380 2.05E-04 Glycosylated haemoglobin levels HPOID:0011902|HPOID:0000077|HPOID:0001626|HPOID:0000819|HPOID:0000479 DOID:1287|DOID:9351|DOID:557|DOID:5679 T intron GWASdb_trait 4 1086871 rs11939380 T C rs11939380 1.50E-05 Urinary metabolites HPOID:0000079 DOID:557 T intron GWASdb_trait 4 1086871 rs11939380 T C rs11939380 4.45E-16 Recombination rate HPOID:0000005 NA T intron GWASdb_trait 4 1090625 rs4045481 G A rs4045481 1.68E-04 Glycosylated haemoglobin levels HPOID:0011902|HPOID:0000077|HPOID:0001626|HPOID:0000819|HPOID:0000479 DOID:1287|DOID:9351|DOID:557|DOID:5679 G cds-synon GWASdb_trait 4 1090625 rs4045481 G A rs4045481 1.60E-05 Urinary metabolites HPOID:0000079 DOID:557 G cds-synon GWASdb_trait 4 1090625 rs4045481 G A rs4045481 1.47E-04 Lymphocyte counts HPOID:0004332|HPOID:0002665 DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287 G cds-synon GWASdb_trait 4 1095281 rs3796619 A G rs3796619 3.00E-24 Recombination rate (males) HPOID:0000005 NA T intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000178222.12 RNF212 612041