{{Rsnum
|rsid=1126821
|Gene=JUP
|Chromosome=17
|position=41755893
|Orientation=minus
|GMAF=0.4279
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene_s=JUP
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;T)
| geno3=(T;T)
| CEU | 6.3 | 42.9 | 50.8
| HCB | 47.7 | 45.5 | 6.8
| JPT | 25.6 | 55.8 | 18.6
| YRI | 31.1 | 37.7 | 31.1
| ASW | 0.0 | 0.0 | 0.0
| CHB | 47.7 | 45.5 | 6.8
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}
{{omim
|id=611528
|rsnum=1126821
}}{{GET Evidence
|gene=JUP
|aa_change=Met697Leu
|aa_change_short=M697L
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1126821
|overall_frequency_n=7519
|overall_frequency_d=10758
|overall_frequency=0.698922
|n_genomes=48
|n_genomes_annotated=0
|n_haplomes=65
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-3
|autoscore=2
|webscore=N
}}{{ClinVar
|ALT=A
|CAF=0.4279; 0.5721
|CHROM=17
|CLNACC=RCV000020467.1; RCV000039075.1
|CLNALLE=1
|CLNDBN=Naxos disease; AllHighlyPenetrant
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; MedGen
|CLNDSDBID=NBK1131:C1832600:601214:34217; CN169374
|CLNHGVS=NC_000017.10:g.39912145T>A
|CLNORIGIN=0
|CLNSIG=2
|CLNSRC=GeneReviews
|CLNSRCID=NBK1131
|COMMON=1
|Disease=Naxos disease; AllHighlyPenetrant
|FwdALT=T
|FwdREF=A
|GENEINFO=JUP:3728
|GENE_ID=3728
|GENE_NAME=JUP
|REF=T
|RSPOS=39912145
|Reversed=1
|SAO=1
|SSR=0
|Tags=RV;PM;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|VC=SNV
|VP=0x05016000000017051f110100
|WGT=0
|dbSNPBuildID=86
|rsid=1126821
}}