{{Rsnum
|rsid=3804505
|Gene=EFHC1
|Chromosome=6
|position=52438563
|Orientation=plus
|GMAF=0.04362
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=EFHC1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 93.8 | 6.2 | 0.0
| HCB | 87.0 | 13.0 | 0.0
| JPT | 90.1 | 9.9 | 0.0
| YRI | 99.3 | 0.7 | 0.0
| ASW | 94.6 | 5.4 | 0.0
| CHB | 87.0 | 13.0 | 0.0
| CHD | 80.6 | 19.4 | 0.0
| GIH | 85.0 | 15.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 89.5 | 10.5 | 0.0
| MKK | 99.4 | 0.6 | 0.0
| TSI | 96.0 | 4.0 | 0.0
| HapMapRevision=28
}}{{omim
|desc=MYOCLONIC EPILEPSY, JUVENILE, 1
|id=608815
|rsnum=3804505
|variant=0001
}}

{{ClinVar
|rsid=3804505
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=52303361
|CHROM=6
|GMAF=0.0435
|dbSNPBuildID=107
|SSR=0
|SAO=1
|VP=0x050368000000150517110101
|GENEINFO=EFHC1:114327
|GENE_NAME=EFHC1
|GENE_ID=114327
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000006.11:g.52303361G>A
|CLNORIGIN=1
|CLNSIG=255
|Tags=RV;PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9564; 0.04362
|CLNACC=RCV000002144.1
|CLNDBN=Myoclonic epilepsy, juvenile 1
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=608815.0001
|COMMON=1
|Disease=Myoclonic epilepsy
}}

{{PMID Auto
|PMID=18823326
|Title=DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.
}}

{{GET Evidence
|gene=EFHC1
|aa_change=Arg182His
|aa_change_short=R182H
|impact=benign
|qualified_impact=Low clinical importance, Likely benign
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3804505
|overall_frequency_n=473
|overall_frequency_d=10758
|overall_frequency=0.0439673
|n_genomes=8
|n_genomes_annotated=0
|n_haplomes=8
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=1
|qualitycomment_in_vitro=Y
|qualityscore_case_control=3
|qualitycomment_case_control=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.038
|genetests_testable=Y
|nblosum100=1
|autoscore=3
|webscore=N
|n_web_uneval=10
|variant_evidence=0
|clinical_importance=1
|summary_short=Probably benign. OMIM appears to incorrectly interpret literature as linking this variant to juvenile myoclonic epilepsy; the authors report it as a polymorphism.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}