{{Rsnum
|rsid=121912771
|Gene=COL17A1
|Chromosome=10
|position=104034193
|Orientation=minus
|GMAF=0.0004591
|Gene_s=COL17A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{omim
|id=113811
|rsnum=121912771
|variant=0006
}}{{ClinVar
|rsid=121912771
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=105793951
|CHROM=10
|GMAF=0.0005
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000016110100
|GENEINFO=COL17A1:1308
|GENE_NAME=COL17A1
|GENE_ID=1308
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.105793951C>T
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNACC=RCV000019218.26
|CLNDBN=Epidermolysis bullosa, junctional, localisata variant
|CLNDSDB=MedGen
|CLNDSDBID=C2608084
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=113811.0006
|COMMON=0
|Disease=Epidermolysis bullosa
}}