{{Rsnum
|rsid=115556836
|Gene=PTCH1
|Chromosome=9
|position=95468818
|Orientation=plus
|GMAF=0.003673
|Gene_s=PTCH1,RPL7L1P3
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{omim
|id=601309
|rsnum=115556836
|variant=0012
}}{{ClinVar
|rsid=115556836
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=98231100
|CHROM=9
|GMAF=0.0037
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000040516110100
|GENEINFO=LOC100507346:100507346; PTCH1:5727
|GENE_NAME=LOC100507346; PTCH1
|GENE_ID=100507346; 5727
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000009.11:g.98231100G>A
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=11404; 601309.0012
|CLNSIG=5
|CLNCUI=C1835820
|CLNDBN=Holoprosencephaly 7; not provided; AllHighlyPenetrant
|Disease=Holoprosencephaly 7; not provided; AllHighlyPenetrant
|CLNACC=RCV000008705.1; RCV000034564.1; RCV000078462.1
|Tags=PM;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9963; 0.003673
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; MedGen
|CLNDSDBID=NBK1530:C1835820:610828:2162; CN169374
|COMMON=1
}}