{{Rsnum
|rsid=121912932
|Chromosome=9
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=COL5A1
|position=134820135
|Gene_s=COL5A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=120215
|rsnum=121912932
|variant=0007
}}{{ClinVar
|rsid=121912932
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=137711981
|CHROM=9
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=COL5A1:1289
|GENE_NAME=COL5A1
|GENE_ID=1289
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000009.11:g.137711981G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=120215.0007
|CLNSIG=5
|CLNCUI=C0268335
|CLNDBN=Ehlers-Danlos syndrome, type 1
|Disease=Ehlers-Danlos syndrome
|CLNACC=RCV000018729.26
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1244:C0268335:130000:287:90309:83470009
}}