{{Rsnum
|rsid=79761183
|Gene=EFHC1
|Chromosome=6
|position=52452776
|Orientation=plus
|GMAF=0.004132
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=EFHC1
}}{{omim
|id=608815
|rsnum=79761183
|variant=0005
}}{{ClinVar
|ALT=A
|CAF=0.9959; 0.004132
|CHROM=6
|CLNACC=RCV000002148.1
|CLNALLE=1
|CLNDBN=Myoclonic epilepsy, juvenile 1
|CLNHGVS=NC_000006.11:g.52317574G>A
|CLNSIG=255
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=608815.0005
|COMMON=1
|Disease=Myoclonic epilepsy
|FwdALT=A
|FwdREF=G
|GENEINFO=EFHC1:114327
|GENE_ID=114327
|GENE_NAME=EFHC1
|REF=G
|RSPOS=52317574
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;S3D;VLD;HD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050260000000040416110100
|WGT=0
|dbSNPBuildID=132
|rsid=79761183
}}