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rs113994176

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs113994176(-;-)
Make rs113994176(-;GCA)
Make rs113994176(GCA;GCA)
ReferenceGRCh38 38.1/141
Chromosome17
Position41771736
GeneJUP
is asnp
is mentioned by
dbSNPrs113994176
ebirs113994176
HLIrs113994176
Exacrs113994176
Varsomers113994176
Maprs113994176
PheGenIrs113994176
hapmaprs113994176
1000 genomesrs113994176
hgdprs113994176
ensemblrs113994176
gopubmedrs113994176
geneviewrs113994176
scholarrs113994176
googlers113994176
pharmgkbrs113994176
gwascentralrs113994176
openSNPrs113994176
23andMers113994176
23andMe allrs113994176
SNP Nexus

SNPshotrs113994176
SNPdbers113994176
MSV3drs113994176
GWAS Ctlgrs113994176
Max Magnitude0
OMIM173325
Desc
Variant0002
Relatedalso
[PMID 17924338OA-icon.png] A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy.
ClinVar
Risk rs113994176(GCA;GCA)
Alt rs113994176(GCA;GCA)
Reference rs113994176(;)
Significance Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene JUP
CLNDBN Arrhythmogenic right ventricular cardiomyopathy, type 12
Reversed 1
HGVS NC_000017.10:g.39927989_39927991dupTGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000014570.20,