{{Rsnum
|rsid=121918400
|Chromosome=9
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=ENG
|position=127824960
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ENG
}}{{omim
|id=131195
|rsnum=121918400
|variant=0001
}}{{ClinVar
|rsid=121918400
|Reversed=1
|FwdREF=C
|FwdALT=G
|REF=G
|ALT=C
|RSPOS=130587239
|CHROM=9
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=ENG:2022
|GENE_NAME=ENG
|GENE_ID=2022
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000009.11:g.130587239G>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=131195.0001
|CLNSIG=5
|CLNCUI=CN034812
|CLNDBN=Hereditary hemorrhagic telangiectasia type 1
|Disease=Hereditary hemorrhagic telangiectasia type 1
|CLNACC=RCV000018148.26
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1351:CN034812:187300:21877004
}}