{{Rsnum
|rsid=113994108
|Chromosome=13
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=COL4A1
|position=110181326
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=COL4A1
}}{{omim
|id=120130
|rsnum=113994108
|variant=0010
}}{{ClinVar
|rsid=113994108
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=110833673
|CHROM=13
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050160000000000002110100
|GENEINFO=COL4A1:1282
|GENE_NAME=COL4A1
|GENE_ID=1282
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000013.10:g.110833673C>T
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;SLO;OTHERKG;LSD;OM
|CLNACC=RCV000018964.26; RCV000032214.1
|CLNDBN=Brain small vessel disease with axenfeld-rieger anomaly; Brain small vessel disease with hemorrhage
|CLNDSDB=MedGen; GeneReviews:MedGen:OMIM
|CLNDSDBID=C2675650; NBK7046:C1843512:607595
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK7046; 120130.0010
|Disease=Brain small vessel disease with axenfeld-rieger anomaly; Brain small vessel disease with hemorrhage
}}