{{Rsnum
|rsid=40433
|Gene=PKD1
|Chromosome=16
|position=2114807
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.09275
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=PKD1
}}This SNP is in the [[PKD1]] gene. It's pathogenicity (if any) is unclear.

{{Venter SNP
|rsid=40433
|allele=T
|frequency=
|uid=1103645402376
|type=homozygous_SNP
|hugo=PKD1
|ensembl gene=ENSG00000008710
|ensembl transcript=ENST00000262304
|sift=TOLERATED
|disease=Defects in PKD1 are the cause of autosomal dominant polycystic kidney disease type I (ADPKD) (MIM:173900); a common autosomal dominant genetic disease affecting about 1 out 1'000 individuals. ADPKD is characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end- stage renal disease in adult life. Cysts also occurs in the liver and other organs.
}}

{{GET Evidence
|gene=PKD1
|aa_change=Arg739Gln
|aa_change_short=R739Q
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs40433
|overall_frequency_n=1490
|overall_frequency_d=1704
|overall_frequency=0.874413
|n_genomes=9
|n_genomes_annotated=0
|n_haplomes=18
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.001
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}