{{Rsnum
|rsid=34197769
|Gene=PKD1
|Chromosome=16
|position=2094175
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.06841
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=PKD1
}}This SNP, also known as Ala3512Val, is in the [[PKD1]] gene. It is likely to be a neutral change without known medical consequences according to ClinVar.

{{Venter SNP
|rsid=34197769
|allele=A
|frequency=
|uid=1103645402316
|type=heterozygous_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=Ala3512Val
|aa_change_short=A3512V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs34197769
|overall_frequency_n=1021
|overall_frequency_d=10738
|overall_frequency=0.0950829
|n_genomes=14
|n_genomes_annotated=0
|n_haplomes=15
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.001
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|autoscore=3
|n_web_uneval=2
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}