{{Rsnum
|rsid=9370096
|Gene=PKHD1
|Chromosome=6
|position=52050158
|Orientation=plus
|GMAF=0.41
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=PKHD1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 25.7 | 45.1 | 29.2
| HCB | 18.2 | 44.5 | 37.2
| JPT | 15.9 | 40.7 | 43.4
| YRI | 0.7 | 19.7 | 79.6
| ASW | 1.8 | 31.6 | 66.7
| CHB | 18.2 | 44.5 | 37.2
| CHD | 10.1 | 50.5 | 39.4
| GIH | 9.9 | 52.5 | 37.6
| LWK | 0.0 | 29.1 | 70.9
| MEX | 41.4 | 44.8 | 13.8
| MKK | 3.2 | 28.8 | 67.9
| TSI | 30.4 | 51.0 | 18.6
| HapMapRevision=28
}}{{Venter SNP
|rsid=9370096
|allele=A
|frequency=0.467
|uid=1103652867222
|type=heterozygous_SNP
|hugo=PKHD1
|ensembl gene=ENSG00000170927
|ensembl transcript=ENST00000371117
|sift=AFFECT FUNCTION
|disease=Defects in PKHD1 are the cause of all typical forms of autosomal recessive polycystic kidney disease (ARPKD) (MIM:263200). ARPKD is a hereditary and severe form of polycystic kidney disease affecting the kidneys and the hepatic biliary tract. The clinical spectrum is widely variable, with most cases presenting during infancy. The fetal phenotypic features classically include enlarged and echogenic kidneys, as well as oligohydramnios secondary to a poor urine output. Up to 50% of the affected neonates die shortly after birth, as a result of severe pulmonary hypoplasia and secondary respiratory insufficiency. In the subset that survives the perinatal period, morbidity and mortality are mainly related to severe systemic hypertension, renal insufficiency, and portal hypertension due to portal-tract fibrosis.
}}

{{GET Evidence
|gene=PKHD1
|aa_change=Arg760Cys
|aa_change_short=R760C
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs9370096
|overall_frequency_n=4156
|overall_frequency_d=10758
|overall_frequency=0.386317
|n_genomes=33
|n_genomes_annotated=0
|n_haplomes=44
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=8
|autoscore=3
|n_web_uneval=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}