{{Rsnum
|rsid=61735045
|Gene=COL5A1
|Chromosome=9
|position=134750808
|Orientation=plus
|GMAF=0.02525
|Gene_s=COL5A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ClinVar
|ALT=A
|CAF=0.9747; 0.02525
|CHROM=9
|CLNACC=RCV000032106.1
|CLNALLE=1
|CLNDBN=Ehlers-Danlos syndrome, type 2
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1244:C0268336:130010:287:90318:20766005
|CLNHGVS=NC_000009.11:g.137642654G>A
|CLNORIGIN=0
|CLNSIG=5
|CLNSRC=GeneReviews
|CLNSRCID=NBK1244
|COMMON=1
|Disease=Ehlers-Danlos syndrome
|FwdALT=A
|FwdREF=G
|GENEINFO=COL5A1:1289
|GENE_ID=1289
|GENE_NAME=COL5A1
|REF=G
|RSPOS=137642654
|Reversed=0
|SAO=1
|SSR=0
|Tags=PM;PMC;SLO;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050168000000140516110100
|WGT=0
|dbSNPBuildID=129
|rsid=61735045
}}

{{PMID Auto
|PMID=10602121
|Title=Compound heterozygosity for a disease-causing G1489E [correction of G1489D] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?
}}

{{PMID Auto
|PMID=11992482
|Title=Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}