Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 171449 single nucleotide variant NM_001160036.1(RHOBTB2):c.458C>G (p.Pro153Arg) 193920745 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 8 23006055 23006055 C G 171449 single nucleotide variant NM_001160036.1(RHOBTB2):c.458C>G (p.Pro153Arg) 193920745 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 8 22863568 22863568 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 8 22849422 rs7826882 G T rs7826882 1.58E-05 Hypertension HPOID:0000822 DOID:10763 G intron GWASdb_trait 8 22873533 rs876435 G A rs876435 1.97E-05 Magnesium levels HPOID:0004921 DOID:11977|DOID:13581 A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000008853.16 RHOBTB2 607352