{{Rsnum
|rsid=104894680
|Gene=FKRP
|Chromosome=19
|position=46756604
|Orientation=plus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=FKRP
}}{{omim
|id=606596
|rsnum=104894680
|variant=0002
}}{{ClinVar
|rsid=104894680
|Reversed=0
|FwdREF=C
|FwdALT=A,T
|REF=C
|ALT=A,T
|RSPOS=47259861
|CHROM=19
|GMAF=0.0005
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000040016110100
|GENEINFO=FKRP:79147
|GENE_NAME=FKRP
|GENE_ID=79147
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.47259861C>A
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNACC=RCV000004440.1
|CLNDBN=Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5
|CLNDSDB=MedGen
|CLNDSDBID=CN068805
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=606596.0002
|COMMON=0
|Disease=Congenital muscular dystrophy-dystroglycanopathy without mental retardation
}}