{{Rsnum
|rsid=398123019
|Chromosome=20
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=RTEL1
|position=63672607
|Gene_s=RTEL1,RTEL1-TNFRSF6B
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=20
|CLNACC=RCV000034864.2
|CLNALLE=1
|CLNDBN=Dyskeratosis congenita, autosomal recessive, 5
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=CN169266:615190:1775
|CLNHGVS=NC_000020.10:g.62303960G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=608833.0006
|Disease=Dyskeratosis congenita
|FwdALT=A
|FwdREF=G
|GENEINFO=RTEL1-TNFRSF6B:100533107; RTEL1:51750
|GENE_ID=100533107; 51750
|GENE_NAME=RTEL1-TNFRSF6B; RTEL1
|REF=G
|RSPOS=62303960
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=138
|rsid=398123019
}}