{{Rsnum
|rsid=121912553
|Gene=IMPDH1
|Chromosome=7
|position=128400828
|Orientation=minus
|GMAF=0.0009183
|Gene_s=IMPDH1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{omim
|id=146690
|rsnum=121912553
|variant=0004
}}{{ClinVar
|rsid=121912553
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=128040882
|CHROM=7
|GMAF=0.0009
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000016110100
|GENEINFO=IMPDH1:3614
|GENE_NAME=IMPDH1
|GENE_ID=3614
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.128040882G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=146690.0004
|CLNSIG=5
|CLNCUI=C1840284
|CLNDBN=Leber congenital amaurosis 11
|Disease=Leber congenital amaurosis 11
|CLNACC=RCV000015962.24
|Tags=RV;PM;S3D;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9991; 0.0009183
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1840284:613837:65
|COMMON=1
}}