{{Rsnum
|rsid=121913026
|Chromosome=19
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=ERCC2
|position=45352235
|Gene_s=ERCC2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=126340
|rsnum=121913026
|variant=0014
}}{{ClinVar
|rsid=121913026
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=45855493
|CHROM=19
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=ERCC2:2068
|GENE_NAME=ERCC2
|GENE_ID=2068
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.45855493G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=126340.0014
|CLNSIG=5
|CLNCUI=C0740342
|CLNDBN=BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
|Disease=BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome
|CLNACC=RCV000018283.26
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen:SNOMED_CT
|CLNDSDBID=C0740342:403796005
}}