Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 226405 single nucleotide variant NM_018191.3(RCBTB1):c.1172+1G>A 869312819 Gene:1283,MedGen:C0154832,OMIM:300216,SNOMED CT:C0154832;MedGen:C0339539,Orphanet:ORPHA891 13 50118872 50118872 C T 226405 single nucleotide variant NM_018191.3(RCBTB1):c.1172+1G>A 869312819 Gene:1283,MedGen:C0154832,OMIM:300216,SNOMED CT:C0154832;MedGen:C0339539,Orphanet:ORPHA891 13 49544736 49544736 C T 226406 deletion NM_018191.3(RCBTB1):c.707delA (p.Asn236Thrfs) 777630688 Gene:1283,MedGen:C0154832,OMIM:300216,SNOMED CT:C0154832 13 50126318 50126318 T - 226406 deletion NM_018191.3(RCBTB1):c.707delA (p.Asn236Thrfs) 777630688 Gene:1283,MedGen:C0154832,OMIM:300216,SNOMED CT:C0154832 13 49552182 49552182 T - 247423 single nucleotide variant NM_018191.3(RCBTB1):c.1202C>T (p.Ser401Leu) 556664001 MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:C0035334 13 50115934 50115934 G A 247423 single nucleotide variant NM_018191.3(RCBTB1):c.1202C>T (p.Ser401Leu) 556664001 MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:C0035334 13 49541798 49541798 G A 247424 single nucleotide variant NM_018191.3(RCBTB1):c.1164G>T (p.Leu388Phe) 879255547 MedGen:CN238856,OMIM:617175;MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:C0035334 13 50118881 50118881 C A 247424 single nucleotide variant NM_018191.3(RCBTB1):c.1164G>T (p.Leu388Phe) 879255547 MedGen:CN238856,OMIM:617175;MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:C0035334 13 49544745 49544745 C A 247425 single nucleotide variant NM_018191.3(RCBTB1):c.1151A>G (p.His384Arg) 143970072 MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:C0035334 13 49544758 49544758 T C 247425 single nucleotide variant NM_018191.3(RCBTB1):c.1151A>G (p.His384Arg) 143970072 MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:C0035334 13 50118894 50118894 T C 247426 single nucleotide variant NM_018191.3(RCBTB1):c.973C>T (p.His325Tyr) 200826424 MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:C0035334 13 50123666 50123666 G A 247426 single nucleotide variant NM_018191.3(RCBTB1):c.973C>T (p.His325Tyr) 200826424 MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:C0035334 13 49549530 49549530 G A 247427 single nucleotide variant NM_018191.3(RCBTB1):c.930G>T (p.Trp310Cys) 772592456 MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:C0035334 13 50123709 50123709 C A 247427 single nucleotide variant NM_018191.3(RCBTB1):c.930G>T (p.Trp310Cys) 772592456 MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:C0035334 13 49549573 49549573 C A 247428 single nucleotide variant NM_018191.3(RCBTB1):c.919G>A (p.Val307Met) 368217569 MedGen:CN238856,OMIM:617175;MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:C0035334 13 50123720 50123720 C T 247428 single nucleotide variant NM_018191.3(RCBTB1):c.919G>A (p.Val307Met) 368217569 MedGen:CN238856,OMIM:617175;MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:C0035334 13 49549584 49549584 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 13 50141362 rs9562900 G A rs9562900 8.93E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 G cds-synon GWASdb_trait 13 50151926 rs7981396 C T rs7981396 1.49E-04 Lymphocyte counts HPOID:0004332|HPOID:0002665 DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000136144.11 RCBTB1 607867