{{Rsnum
|rsid=387906810
|Chromosome=4
|position=110618679
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=PITX2
|Gene_s=PITX2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=4
|CLNACC=RCV000023116.1
|CLNALLE=1
|CLNDBN=Axenfeld-Rieger syndrome type 1
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=CN029264:180500:782:47507006
|CLNHGVS=NC_000004.11:g.111539835T>C
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=601542.0013
|Disease=Axenfeld-Rieger syndrome type 1
|FwdALT=G
|FwdREF=A
|REF=T
|RSPOS=111539835
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387906810
|GENEINFO=PITX2:5308
|GENE_ID=5308
|GENE_NAME=PITX2
}}