{{Rsnum
|rsid=121964968
|Gene=CBS
|Chromosome=21
|position=43053920
|Orientation=minus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=CBS
}}{{omim
|id=613381
|rsnum=121964968
|variant=0008
}}{{ClinVar
|rsid=121964968
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=44474030
|CHROM=21
|GMAF=0.0005
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000016110100
|GENEINFO=CBS:875
|GENE_NAME=CBS
|GENE_ID=875
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000021.8:g.44474030A>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=613381.0008
|CLNSIG=5
|CLNCUI=CN068394
|CLNDBN=Homocystinuria, pyridoxine-responsive
|Disease=Homocystinuria
|CLNACC=RCV000000146.1
|Tags=RV;PM;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=MedGen
|CLNDSDBID=CN068394
|COMMON=0
}}