rs782091454
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs782091454(A;G) |
Make rs782091454(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 41767470 |
Gene | JUP |
is a | snp |
is | mentioned by |
dbSNP | rs782091454 |
dbSNP (classic) | rs782091454 |
ClinGen | rs782091454 |
ebi | rs782091454 |
HLI | rs782091454 |
Exac | rs782091454 |
Gnomad | rs782091454 |
Varsome | rs782091454 |
LitVar | rs782091454 |
Map | rs782091454 |
PheGenI | rs782091454 |
Biobank | rs782091454 |
1000 genomes | rs782091454 |
hgdp | rs782091454 |
ensembl | rs782091454 |
geneview | rs782091454 |
scholar | rs782091454 |
rs782091454 | |
pharmgkb | rs782091454 |
gwascentral | rs782091454 |
openSNP | rs782091454 |
23andMe | rs782091454 |
SNPshot | rs782091454 |
SNPdbe | rs782091454 |
MSV3d | rs782091454 |
GWAS Ctlg | rs782091454 |
Merged from | Rs794729053 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs782091454(G;G) |
Alt | rs782091454(G;G) |
Reference | Rs782091454(A;A) |
Significance | Probable-Pathogenic |
Disease | Naxos disease Cardiomyopathy |
Variation | info |
Gene | JUP |
CLNDBN | Naxos disease Cardiomyopathy, ARVC |
Reversed | 0 |
HGVS | NC_000017.10:g.39923722A>G |
CLNSRC | |
CLNACC | RCV000313301.1, RCV000370239.1, |