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rs113994177

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TG;TG) 0 common in complete genomics
Make rs113994177(-;-)
Make rs113994177(-;TG)
ReferenceGRCh38 38.1/141
Chromosome17
Position41757422
GeneJUP
is asnp
is mentioned by
dbSNPrs113994177
ebirs113994177
HLIrs113994177
Exacrs113994177
Varsomers113994177
Maprs113994177
PheGenIrs113994177
hapmaprs113994177
1000 genomesrs113994177
hgdprs113994177
ensemblrs113994177
gopubmedrs113994177
geneviewrs113994177
scholarrs113994177
googlers113994177
pharmgkbrs113994177
gwascentralrs113994177
openSNPrs113994177
23andMers113994177
23andMe allrs113994177
SNP Nexus

SNPshotrs113994177
SNPdbers113994177
MSV3drs113994177
GWAS Ctlgrs113994177
Max Magnitude0
OMIM173325
Desc
Variant0001
Relatedalso
[PMID 10902626] Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).
ClinVar
Risk rs113994177(;)
Alt rs113994177(;)
Reference rs113994177(TG;TG)
Significance Pathogenic
Disease Naxos disease
Variation info
Gene JUP
CLNDBN Naxos disease
Reversed 1
HGVS NC_000017.10:g.39913674_39913675delCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000014569.21,