{{Rsnum
|rsid=118203996
|Chromosome=1
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=LEPRE1
|position=42755616
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=LEPRE1
}}{{omim
|id=610339
|rsnum=118203996
|variant=0006
}}{{ClinVar
|rsid=118203996
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=42755616
|CHROM=1
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050160000605000002110100
|GENEINFO=LEPRE1:64175
|GENE_NAME=LEPRE1
|GENE_ID=64175
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.42755616G>A
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_001146289.1:c.1102C>T; 610339.0006
|CLNSIG=5
|CLNCUI=C1970458
|CLNDBN=Osteogenesis imperfecta type 8
|Disease=Osteogenesis imperfecta type 8
|CLNACC=RCV000001320.1
|Tags=RV;PM;SLO;NSN;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C1970458:610915
}}