{{Rsnum
|rsid=121917905
|Chromosome=10
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=ERCC6
|position=49471085
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ERCC6
}}{{omim
|id=609413
|rsnum=121917905
|variant=0013
}}{{ClinVar
|rsid=121917905
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=50679131
|CHROM=10
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=ERCC6:2074
|GENE_NAME=ERCC6
|GENE_ID=2074
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.50679131A>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=609413.0013
|CLNSIG=5
|CLNCUI=C0220722
|CLNDBN=Cerebro-oculo-facio-skeletal syndrome
|Disease=Cerebro-oculo-facio-skeletal syndrome
|CLNACC=RCV000001782.1
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0220722:214150:1466:41283003
}}