Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 248557 single nucleotide variant NM_032138.5(KBTBD7):c.1496C>G (p.Pro499Arg) 754048481 Gene:4156,MedGen:C0221060,OMIM:157900,Orphanet:ORPHA570,SNOMED CT:C0221060 13 41766898 41766898 G C 248557 single nucleotide variant NM_032138.5(KBTBD7):c.1496C>G (p.Pro499Arg) 754048481 Gene:4156,MedGen:C0221060,OMIM:157900,Orphanet:ORPHA570,SNOMED CT:C0221060 13 41192762 41192762 G C 248558 single nucleotide variant NM_032138.5(KBTBD7):c.1208A>C (p.Lys403Thr) 748092018 Gene:4156,MedGen:C0221060,OMIM:157900,Orphanet:ORPHA570,SNOMED CT:C0221060 13 41767186 41767186 T G 248558 single nucleotide variant NM_032138.5(KBTBD7):c.1208A>C (p.Lys403Thr) 748092018 Gene:4156,MedGen:C0221060,OMIM:157900,Orphanet:ORPHA570,SNOMED CT:C0221060 13 41193050 41193050 T G