{{Rsnum
|rsid=357564
|Gene=PTCH1
|Chromosome=9
|position=95447312
|Orientation=plus
|GMAF=0.382
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=PTCH1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 6.3 | 41.3 | 52.4
| HCB | 29.5 | 50.0 | 20.5
| JPT | 30.2 | 62.8 | 7.0
| YRI | 6.6 | 39.3 | 54.1
| ASW | 0.0 | 0.0 | 0.0
| CHB | 29.5 | 50.0 | 20.5
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{PMID Auto
|PMID=19937600
|Title=Testing reported associations of genetic risk factors for oral clefts in a large Irish study population
|OA=1
}}

{{PMID|20346027}} PTCH1 gene haplotype association with basal cell carcinoma after transplantation.

{{PMID|20583170|OA=1
}} Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.

{{GET Evidence
|gene=PTCH1
|aa_change=Pro1315Leu
|aa_change_short=P1315L
|impact=benign
|qualified_impact=Low clinical importance, Uncertain benign
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs357564
|overall_frequency_n=3100
|overall_frequency_d=10462
|overall_frequency=0.29631
|n_genomes=33
|n_genomes_annotated=0
|n_haplomes=42
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=!
|qualitycomment_in_silico=Y
|qualityscore_case_control=5
|qualitycomment_case_control=Y
|gene_in_genetests=Y
|pph2_score=0.999
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=7
|autoscore=4
|webscore=Y
|variant_evidence=0
|clinical_importance=0
|summary_short=Common polymorphism, presumed benign.
}}

{{PMID Auto
|PMID=22221699
|Title=Loss of heterozygosity of the PTCH gene in ameloblastoma.
}}

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