{{Rsnum
|rsid=140740776
|Gene=JPH2
|Chromosome=20
|position=44116162
|Orientation=plus
|GMAF=0.01286
|Gene_s=JPH2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ClinVar
|ALT=T
|CAF=0.9871; 0.01286
|CHROM=20
|CLNACC=RCV000023411.1; RCV000082005.1
|CLNALLE=1
|CLNDBN=Familial hypertrophic cardiomyopathy 17; AllHighlyPenetrant
|CLNDSDB=MedGen:OMIM; MedGen
|CLNDSDBID=C3151264:613873; CN169374
|CLNHGVS=NC_000020.10:g.42744802C>T
|CLNSIG=5
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNSRCID=11373; 605267.0004
|COMMON=1
|Disease=Familial hypertrophic cardiomyopathy 17; AllHighlyPenetrant
|FwdALT=T
|FwdREF=C
|GENEINFO=JPH2:57158
|GENE_ID=57158
|GENE_NAME=JPH2
|REF=C
|RSPOS=42744802
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;KGPhase1;KGPROD;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000100016110100
|WGT=0
|dbSNPBuildID=134
|rsid=140740776
}}