{{Rsnum
|rsid=121913554
|Gene=PLOD1
|Chromosome=1
|position=11972977
|Orientation=plus
|GMAF=0.0004591
|Gene_s=PLOD1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{omim
|id=153454
|rsnum=121913554
|variant=0010
}}{{ClinVar
|rsid=121913554
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=11972977
|CHROM=1
|GMAF=0.0005
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000605000016110100
|GENEINFO=PLOD1:5351
|GENE_NAME=PLOD1
|GENE_ID=5351
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.11972977C>T
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_000302.3:c.2008C>T; 153454.0010
|CLNSIG=5
|CLNCUI=C0268342
|CLNDBN=Ehlers-Danlos syndrome, hydroxylysine-deficient
|Disease=Ehlers-Danlos syndrome
|CLNACC=RCV000015440.20
|Tags=PM;NSN;REF;ASP;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1462:C0268342:225400:ORPHA1900:25606004
|COMMON=0
}}