{{Rsnum
|rsid=387906606
|Chromosome=9
|position=134805044
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=COL5A1
|Gene_s=COL5A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=9
|CLNACC=RCV000022486.26
|CLNALLE=1
|CLNDBN=Ehlers-Danlos syndrome, type 1
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1244:C0268335:130000:287:90309:83470009
|CLNHGVS=NC_000009.11:g.137696890C>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=120215.0012
|Disease=Ehlers-Danlos syndrome
|FwdALT=T
|FwdREF=C
|REF=C
|RSPOS=137696890
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387906606
|GENEINFO=COL5A1:1289
|GENE_ID=1289
|GENE_NAME=COL5A1
}}