{{Rsnum
|rsid=137852944
|Gene=PKHD1
|Chromosome=6
|position=52083201
|Orientation=minus
|GMAF=0.0004591
|Gene_s=PKHD1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{omim
|id=606702
|variant=0001
|rsnum=137852944
}}{{ClinVar
|rsid=137852944
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=51947999
|CHROM=6
|GMAF=0.0005
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000040016110100
|GENEINFO=PKHD1:5314
|GENE_NAME=PKHD1
|GENE_ID=5314
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000006.11:g.51947999G>A
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=2579; 606702.0001
|CLNSIG=255
|CLNCUI=C0085548
|CLNDBN=Polycystic kidney disease, infantile type; COLORECTAL CANCER, PROTECTION AGAINST; not provided
|Disease=Polycystic kidney disease; COLORECTAL CANCER; not provided
|CLNACC=RCV000004324.1; RCV000023566.1; RCV000082517.1
|Tags=RV;PM;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1326:C0085548:263200:731:28770003
|COMMON=0
}}