{{Rsnum
|rsid=185142838
|Gene=ERCC6
|Chromosome=10
|position=49461473
|Orientation=plus
|GMAF=0.0004591
|Gene_s=ERCC6
|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=10
|CLNACC=RCV000024284.1
|CLNALLE=1
|CLNDBN=Cerebro-oculo-facio-skeletal syndrome
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0220722:214150:1466:41283003
|CLNHGVS=NC_000010.10:g.50669519G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=609413.0015
|COMMON=0
|Disease=Cerebro-oculo-facio-skeletal syndrome
|FwdALT=A
|FwdREF=G
|GENEINFO=ERCC6:2074
|GENE_ID=2074
|GENE_NAME=ERCC6
|REF=G
|RSPOS=50669519
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;KGPhase1;KGPROD;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000016110100
|WGT=0
|dbSNPBuildID=135
|rsid=185142838
}}