{{Rsnum
|rsid=138911275
|Chromosome=9
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=PTCH1
|position=95458026
|Gene_s=PTCH1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=138911275
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=98220308
|CHROM=9
|dbSNPBuildID=134
|SSR=0
|SAO=1
|VP=0x050060000000040002110100
|GENEINFO=PTCH1:5727
|GENE_NAME=PTCH1
|GENE_ID=5727
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000009.11:g.98220308G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=601309.0014
|CLNSIG=5
|CLNCUI=C1835820
|CLNDBN=Holoprosencephaly 7; not provided
|Disease=Holoprosencephaly 7; not provided
|CLNACC=RCV000008707.1; RCV000034570.1
|Tags=PM;VLD;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1530:C1835820:610828:2162
}}