{{Rsnum
|rsid=80338764
|Chromosome=9
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=COL5A1
|position=134824817
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=COL5A1
}}{{omim
|id=120215
|rsnum=80338764
|variant=0003
}}{{ClinVar
|rsid=80338764
|Reversed=0
|FwdREF=G
|FwdALT=C
|REF=G
|ALT=C
|RSPOS=137716663
|CHROM=9
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050160000000000002110100
|GENEINFO=COL5A1:1289
|GENE_NAME=COL5A1
|GENE_ID=1289
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000009.11:g.137716663G>C
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1244; 120215.0003
|CLNSIG=5
|CLNCUI=C0268335
|CLNDBN=Ehlers-Danlos syndrome, type 1; Ehlers-Danlos syndrome, type 2
|Disease=Ehlers-Danlos syndrome; Ehlers-Danlos syndrome
|CLNACC=RCV000018725.26; RCV000032107.1
|Tags=PM;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1244:C0268335:130000:287:90309:83470009; NBK1244:C0268336:130010:287:90318:20766005
}}