{{Rsnum
|rsid=137852776
|Gene=EFHC1
|Chromosome=6
|position=52452799
|Orientation=plus
|GMAF=0.0009183
|Gene_s=EFHC1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{omim
|id=608815
|variant=0002
|rsnum=137852776
}}{{ClinVar
|rsid=137852776
|Reversed=0
|FwdREF=T
|FwdALT=C
|REF=T
|ALT=C
|RSPOS=52317597
|CHROM=6
|GMAF=0.0009
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000040016110100
|GENEINFO=EFHC1:114327
|GENE_NAME=EFHC1
|GENE_ID=114327
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000006.11:g.52317597T>C
|CLNORIGIN=1
|CLNSIG=255
|Tags=PM;S3D;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9991; 0.0009183
|CLNACC=RCV000002145.1
|CLNDBN=Myoclonic epilepsy, juvenile 1
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=608815.0002
|COMMON=1
|Disease=Myoclonic epilepsy
}}