{{Rsnum
|rsid=121909249
|Chromosome=4
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=PITX2
|position=110621169
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PITX2
}}{{omim
|id=601542
|rsnum=121909249
|variant=0010
}}{{ClinVar
|rsid=121909249
|Reversed=1
|FwdREF=G
|FwdALT=C
|REF=C
|ALT=G
|RSPOS=111542325
|CHROM=4
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=PITX2:5308
|GENE_NAME=PITX2
|GENE_ID=5308
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000004.11:g.111542325C>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=601542.0010
|CLNSIG=5
|CLNCUI=CN071991
|CLNDBN=Axenfeld-Rieger syndrome type 1
|Disease=Axenfeld-Rieger syndrome type 1
|CLNACC=RCV000008560.1
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=CN029264:180500:782:47507006
}}