Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 65574 single nucleotide variant NM_207111.3(RNF216):c.2251C>T (p.Arg751Cys) 387907368 MedGen:C1859305,OMIM:212840 7 5680916 5680916 G A 65574 single nucleotide variant NM_207111.3(RNF216):c.2251C>T (p.Arg751Cys) 387907368 MedGen:C1859305,OMIM:212840 7 5641285 5641285 G A 65575 single nucleotide variant NM_207111.3(RNF216):c.1791T>A (p.Cys597Ter) 387907369 MedGen:C1859305,OMIM:212840 7 5754726 5754726 A T 65575 single nucleotide variant NM_207111.3(RNF216):c.1791T>A (p.Cys597Ter) 387907369 MedGen:C1859305,OMIM:212840 7 5715095 5715095 A T 65576 deletion NM_207111.3(RNF216):c.615_616delGA (p.Glu205Aspfs) 387907370 MedGen:C1859305,OMIM:212840 7 5781032 5781033 TC - 65576 deletion NM_207111.3(RNF216):c.615_616delGA (p.Glu205Aspfs) 387907370 MedGen:C1859305,OMIM:212840 7 5741401 5741402 TC - 135606 single nucleotide variant NM_207111.3(RNF216):c.1170C>T (p.Asp390=) 111942365 MedGen:CN169374 7 5770400 5770400 G A 135606 single nucleotide variant NM_207111.3(RNF216):c.1170C>T (p.Asp390=) 111942365 MedGen:CN169374 7 5730769 5730769 G A 181427 single nucleotide variant NM_207111.3(RNF216):c.2061G>A (p.Lys687=) 730882248 Human Phenotype Ontology:HP:0000044,MedGen:CN000044;Human Phenotype Ontology:HP:0002415,MedGen:CN002194 7 5711761 5711761 C T 181427 single nucleotide variant NM_207111.3(RNF216):c.2061G>A (p.Lys687=) 730882248 Human Phenotype Ontology:HP:0000044,MedGen:CN000044;Human Phenotype Ontology:HP:0002415,MedGen:CN002194 7 5751392 5751392 C T 196432 single nucleotide variant NM_207111.3(RNF216):c.1367G>A (p.Gly456Glu) 794728000 MedGen:C1859305,OMIM:212840 7 5769085 5769085 C T 196432 single nucleotide variant NM_207111.3(RNF216):c.1367G>A (p.Gly456Glu) 794728000 MedGen:C1859305,OMIM:212840 7 5729454 5729454 C T 196433 single nucleotide variant NM_207111.3(RNF216):c.904C>T (p.Gln302Ter) 373785974 MedGen:C1859305,OMIM:212840 7 5780744 5780744 G A 196433 single nucleotide variant NM_207111.3(RNF216):c.904C>T (p.Gln302Ter) 373785974 MedGen:C1859305,OMIM:212840 7 5741113 5741113 G A 196434 single nucleotide variant NM_207111.3(RNF216):c.1616A>G (p.Tyr539Cys) 148642312 MedGen:C1859305,OMIM:212840 7 5760692 5760692 T C 196434 single nucleotide variant NM_207111.3(RNF216):c.1616A>G (p.Tyr539Cys) 148642312 MedGen:C1859305,OMIM:212840 7 5721061 5721061 T C 207489 single nucleotide variant NM_207111.3(RNF216):c.201A>G (p.Glu67=) 751253895 MedGen:CN169374 7 5792477 5792477 T C 207489 single nucleotide variant NM_207111.3(RNF216):c.201A>G (p.Glu67=) 751253895 MedGen:CN169374 7 5752846 5752846 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 7 5697579 rs852517 G T rs852517 5.82E-04 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 T intron GWASdb_drug 7 5660686 rs852441 A G rs852441 4.86E-04 Multiple complex diseases HPOID:0000118 NA T UTR-3 GWASdb_trait 7 5675700 rs852375 A G rs852375 2.66E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 7 5696125 rs852519 C A,G,T rs852519 5.21E-04 Alcohol dependence HPOID:0000707 DOID:0050741 A intron GWASdb_trait 7 5697579 rs852517 G T rs852517 5.82E-04 Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 T intron GWASdb_trait 7 5721448 rs852394 G A rs852394 5.74E-05 Cognitive test performance HPOID:0100543 DOID:1561 T intron GWASdb_trait 7 5761152 rs1990836 T C rs1990836 5.04E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 7 5817636 rs17135757 G A rs17135757 1.53E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 7 5823221 rs13241373 T C rs13241373 6.58E-05 Hypertension (essential hypertension) HPOID:0000822 DOID:10763 T nearGene-5 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000011275.18 RNF216 609948