{{Rsnum
|rsid=104894684
|Chromosome=19
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=FKRP
|position=46756403
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=FKRP
}}{{omim
|id=606596
|rsnum=104894684
|variant=0017
}}{{ClinVar
|rsid=104894684
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=47259660
|CHROM=19
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=FKRP:79147
|GENE_NAME=FKRP
|GENE_ID=79147
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.47259660G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=606596.0017
|CLNSIG=5
|CLNCUI=C3150413
|CLNDBN=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
|Disease=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
|CLNACC=RCV000004456.1
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet:Orphanet
|CLNDSDBID=C3150413:613153:588:899
}}