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rs797046139

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797046139(C;T)
Make rs797046139(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position41758753
GeneJUP
is asnp
is mentioned by
dbSNPrs797046139
ebirs797046139
HLIrs797046139
Exacrs797046139
Varsomers797046139
Maprs797046139
PheGenIrs797046139
hapmaprs797046139
1000 genomesrs797046139
hgdprs797046139
ensemblrs797046139
gopubmedrs797046139
geneviewrs797046139
scholarrs797046139
googlers797046139
pharmgkbrs797046139
gwascentralrs797046139
openSNPrs797046139
23andMers797046139
23andMe allrs797046139
SNP Nexus

SNPshotrs797046139
SNPdbers797046139
MSV3drs797046139
GWAS Ctlgrs797046139
Max Magnitude0
ClinVar
Risk rs797046139(T;T)
Alt rs797046139(T;T)
Reference rs797046139(C;C)
Significance Pathogenic
Disease Naxos disease
Variation info
Gene JUP
CLNDBN Naxos disease
Reversed 1
HGVS NC_000017.10:g.39915005G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000193584.2,