rs570878629
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs570878629(A;A) |
Make rs570878629(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 41771799 |
Gene | JUP |
is a | snp |
is | mentioned by |
dbSNP | rs570878629 |
dbSNP (classic) | rs570878629 |
ClinGen | rs570878629 |
ebi | rs570878629 |
HLI | rs570878629 |
Exac | rs570878629 |
Gnomad | rs570878629 |
Varsome | rs570878629 |
LitVar | rs570878629 |
Map | rs570878629 |
PheGenI | rs570878629 |
Biobank | rs570878629 |
1000 genomes | rs570878629 |
hgdp | rs570878629 |
ensembl | rs570878629 |
geneview | rs570878629 |
scholar | rs570878629 |
rs570878629 | |
pharmgkb | rs570878629 |
gwascentral | rs570878629 |
openSNP | rs570878629 |
23andMe | rs570878629 |
SNPshot | rs570878629 |
SNPdbe | rs570878629 |
MSV3d | rs570878629 |
GWAS Ctlg | rs570878629 |
Max Magnitude | 0 |
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, |