{{Rsnum
|rsid=199476100
|Gene=PKD1
|Chromosome=16
|position=2114489
|Orientation=minus
|Gene_s=PKD1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Summary=Polycystic Kidney disease
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}[[Polycystic Kidney disease]]; see [http://omim.org/entry/601313#0012 OMIM 601313.0012]
{{ClinVar
|rsid=199476100
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=2164490
|CHROM=16
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000016.9:g.2164490A>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=601313.0012
|CLNSIG=5
|CLNCUI=C0085413
|CLNDBN=Polycystic kidney disease, adult type
|Disease=Polycystic kidney disease
|CLNACC=RCV000008689.2
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:SNOMED_CT
|CLNDSDBID=C0085413:173900:28728008
|GENEINFO=PKD1:5310
|GENE_ID=5310
|GENE_NAME=PKD1
}}