{{Rsnum
|rsid=137852780
|Chromosome=6
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=EFHC1
|position=52454147
|Gene_s=EFHC1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=608815
|variant=0007
|rsnum=137852780
}}{{ClinVar
|rsid=137852780
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=52318945
|CHROM=6
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=EFHC1:114327
|GENE_NAME=EFHC1
|GENE_ID=114327
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000006.11:g.52318945G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=608815.0007
|CLNSIG=255
|CLNCUI=C0014553
|CLNDBN=Epilepsy juvenile absence
|Disease=Epilepsy juvenile absence
|CLNACC=RCV000002150.1
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C0014553:607631:1941
}}