{{Rsnum
|rsid=397514640
|Chromosome=11
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=PAX6
|position=31802733
|Gene_s=PAX6
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=11
|CLNACC=RCV000033168.1
|CLNALLE=1
|CLNDBN=Congenital aniridia
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1360:C0003076:106210:250923:69278003
|CLNHGVS=NC_000011.9:g.31824281G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=607108.0026
|Disease=Congenital aniridia
|FwdALT=T
|FwdREF=C
|GENEINFO=PAX6:5080
|GENE_ID=5080
|GENE_NAME=PAX6
|REF=G
|RSPOS=31824281
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=397514640
}}