{{Rsnum
|rsid=140813121
|Gene=C8B
|Chromosome=1
|position=56949599
|Orientation=plus
|GMAF=0.0004591
|Gene_s=C8B
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ClinVar
|ALT=A
|CAF=0.9995; 0.0004591
|CHROM=1
|CLNACC=RCV000029237.26
|CLNALLE=1
|CLNDBN=Complement component 8 deficiency type 2
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C3151080:613789
|CLNHGVS=NC_000001.11:g.56949599G>A
|CLNSIG=5
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_000066.2:c.820C>T; 120960.0002
|COMMON=0
|Disease=Complement component 8 deficiency type 2
|FwdALT=A
|FwdREF=G
|GENEINFO=C8B:732
|GENE_ID=732
|GENE_NAME=C8B
|REF=G
|RSPOS=56949599
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;S3D;NSN;REF;ASP;KGPhase1;KGPROD;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050260000605000016110100
|WGT=1
|dbSNPBuildID=134
|rsid=140813121
|CLNORIGIN=1
}}