{{Rsnum
|rsid=2135720
|Gene=PCDH15
|Chromosome=10
|position=53995731
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.2957
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=PCDH15
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 4.4 | 28.3 | 67.3
| HCB | 26.3 | 50.4 | 23.4
| JPT | 23.0 | 61.9 | 15.0
| YRI | 8.2 | 39.5 | 52.4
| ASW | 5.3 | 40.4 | 54.4
| CHB | 26.3 | 50.4 | 23.4
| CHD | 18.3 | 52.3 | 29.4
| GIH | 14.9 | 50.5 | 34.7
| LWK | 3.7 | 23.9 | 72.5
| MEX | 1.7 | 27.6 | 70.7
| MKK | 0.6 | 21.8 | 77.6
| TSI | 2.9 | 26.5 | 70.6
| HapMapRevision=28
}}{{Venter SNP
|rsid=2135720
|allele=T
|frequency=0.2
|uid=1103649940891
|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=2135720
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=55755491
|CHROM=10
|GMAF=0.2958
|dbSNPBuildID=96
|SSR=0
|SAO=1
|VP=0x05036800000015051f100101
|GENEINFO=PCDH15:65217
|GENE_NAME=PCDH15
|GENE_ID=65217
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.55755491C>T
|CLNORIGIN=1
|CLNSIG=2
|Tags=RV;PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD
|CAF=0.7043; 0.2957
|CLNACC=RCV000039715.1
|CLNDBN=AllHighlyPenetrant
|CLNDSDB=MedGen
|CLNDSDBID=CN169374
|COMMON=1
|Disease=AllHighlyPenetrant
}}

{{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=Arg929Gln
|aa_change_short=R929Q
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2135720
|overall_frequency_n=24
|overall_frequency_d=128
|overall_frequency=0.1875
|n_genomes=19
|n_genomes_annotated=0
|n_haplomes=21
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.54
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=3
|n_web_uneval=2
}}

{{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}}