{{Rsnum
|rsid=4935502
|Gene=PCDH15
|Chromosome=10
|position=54195684
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=C
|GMAF=0.3375
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=PCDH15
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 3.5 | 17.7 | 78.8
| HCB | 72.6 | 25.2 | 2.2
| JPT | 86.7 | 11.1 | 2.2
| YRI | 3.4 | 22.6 | 74.0
| ASW | 1.8 | 24.6 | 73.7
| CHB | 72.6 | 25.2 | 2.2
| CHD | 77.8 | 18.5 | 3.7
| GIH | 18.0 | 44.0 | 38.0
| LWK | 0.0 | 22.7 | 77.3
| MEX | 13.8 | 32.8 | 53.4
| MKK | 0.6 | 10.3 | 89.0
| TSI | 3.0 | 12.9 | 84.2
| HapMapRevision=28
}}

{{Venter SNP
|rsid=4935502
|allele=G
|frequency=0.14
|uid=1103649941444
|type=heterozygous_SNP
|hugo=PCDH15
|ensembl gene=ENSG00000150275
|ensembl transcript=ENST00000361849
|sift=TOLERATED
|disease=Defects in PCDH15 are the cause of autosomal recessive deafness type 23 (DFNB23) (MIM:609533).
}}

{{ClinVar
|rsid=4935502
|Reversed=0
|FwdREF=T
|FwdALT=G
|REF=T
|ALT=G
|RSPOS=55955444
|CHROM=10
|GMAF=0.337
|dbSNPBuildID=111
|SSR=0
|SAO=1
|VP=0x050168000000150517100101
|GENEINFO=PCDH15:65217
|GENE_NAME=PCDH15
|GENE_ID=65217
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.55955444T>G
|CLNORIGIN=1
|CLNSIG=2
|Tags=PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD
|CAF=0.6625; 0.3375
|CLNACC=RCV000039699.1
|CLNDBN=AllHighlyPenetrant
|CLNDSDB=MedGen
|CLNDSDBID=CN169374
|COMMON=1
|Disease=AllHighlyPenetrant
}}

{{PMID Auto
|PMID=16385451
|Title=A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
|OA=1
}}

{{PMID Auto
|PMID=19816713
|Title=A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia.
|OA=1
}}

{{GET Evidence
|gene=PCDH15
|aa_change=Asp440Ala
|aa_change_short=D440A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs4935502
|overall_frequency_n=1413
|overall_frequency_d=10758
|overall_frequency=0.131344
|n_genomes=4
|n_genomes_annotated=0
|n_haplomes=5
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=5
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=5
|autoscore=2
|webscore=N
}}

{{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}}