{{Rsnum
|rsid=199476097
|Chromosome=16
|Orientation=minus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=PKD1
|position=2090468
|Gene_s=PKD1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}[[Polycystic Kidney disease]]; see [http://omim.org/entry/601313#0006 OMIM 601313.0006]

{{ClinVar
|rsid=199476097
|Reversed=1
|FwdREF=T
|FwdALT=A
|REF=A
|ALT=T
|RSPOS=2140469
|CHROM=16
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000016.9:g.2140469A>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=601313.0006
|CLNSIG=5
|CLNCUI=C0085413
|CLNDBN=Polycystic kidney disease, adult type
|Disease=Polycystic kidney disease
|CLNACC=RCV000008683.1
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:SNOMED_CT
|CLNDSDBID=C0085413:173900:28728008
|GENEINFO=PKD1:5310; MIR1225:100188847
|GENE_ID=5310; 100188847
|GENE_NAME=PKD1; MIR1225
}}