{{Rsnum
|rsid=3751664
|Gene=CACNA1H
|Chromosome=16
|position=1204369
|Orientation=plus
|GMAF=0.06933
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=CACNA1H
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 83.0 | 16.1 | 0.9
| HCB | 77.0 | 21.5 | 1.5
| JPT | 73.2 | 25.0 | 1.8
| YRI | 100.0 | 0.0 | 0.0
| ASW | 98.2 | 1.8 | 0.0
| CHB | 77.0 | 21.5 | 1.5
| CHD | 73.8 | 25.2 | 0.9
| GIH | 98.0 | 2.0 | 0.0
| LWK | 99.1 | 0.9 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 83.3 | 15.7 | 1.0
| HapMapRevision=28
}}{{omim
|id=607904
|rsnum=3751664
|variant=0004
}}

{{PMID Auto
|PMID=19609347
|Title=A genome-wide association study of hypertension and blood pressure in African Americans.
|OA=1
}}

{{GET Evidence
|gene=CACNA1H
|aa_change=Arg788Cys
|aa_change_short=R788C
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3751664
|overall_frequency_n=755
|overall_frequency_d=10508
|overall_frequency=0.07185
|n_genomes=5
|n_genomes_annotated=0
|n_haplomes=5
|n_articles=0
|n_articles_annotated=0
|pph2_score=0.001
|nblosum100=8
|autoscore=1
|n_web_uneval=9
}}

{{ClinVar
|ALT=T
|CAF=0.9307; 0.06933
|CHROM=16
|CLNACC=RCV000002823.1; RCV000082068.1
|CLNALLE=1
|CLNDBN=Epilepsy, childhood absence 6; AllHighlyPenetrant
|CLNDSDB=MedGen:OMIM; MedGen
|CLNDSDBID=C2749872:611942; CN169374
|CLNHGVS=NC_000016.9:g.1254369C>T
|CLNSIG=255
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNSRCID=11628; 607904.0004
|COMMON=1
|Disease=Epilepsy; AllHighlyPenetrant
|FwdALT=T
|FwdREF=C
|GENEINFO=CACNA1H:8912
|GENE_ID=8912
|GENE_NAME=CACNA1H
|REF=C
|RSPOS=1254369
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;TPA;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|VC=SNV
|VP=0x05017800000015051f110101
|WGT=0
|dbSNPBuildID=107
|rsid=3751664
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}