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rs570878629

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs570878629(A;A)
Make rs570878629(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position41771799
GeneJUP
is asnp
is mentioned by
dbSNPrs570878629
dbSNP (classic)rs570878629
ClinGenrs570878629
ebirs570878629
HLIrs570878629
Exacrs570878629
Gnomadrs570878629
Varsomers570878629
LitVarrs570878629
Maprs570878629
PheGenIrs570878629
Biobankrs570878629
1000 genomesrs570878629
hgdprs570878629
ensemblrs570878629
geneviewrs570878629
scholarrs570878629
googlers570878629
pharmgkbrs570878629
gwascentralrs570878629
openSNPrs570878629
23andMers570878629
23andMe allrs570878629
SNPshotrs570878629
SNPdbers570878629
MSV3drs570878629
GWAS Ctlgrs570878629
Max Magnitude0
ClinVar
Risk rs570878629(A;A)
Alt rs570878629(A;A)
Reference Rs570878629(G;G)
Significance Probable-Pathogenic
Disease not specified Cardiovascular phenotype Naxos disease Cardiomyopathy not provided
Variation info
Gene JUP
CLNDBN not specified Cardiovascular phenotype Naxos disease Cardiomyopathy, ARVC not provided
Reversed 0
HGVS NC_000017.10:g.39928051G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000156554.2, RCV000253975.1, RCV000315534.1, RCV000393399.1, RCV000484762.1,