rs782058451
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs782058451(C;C) |
Make rs782058451(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 41767386 |
Gene | JUP |
is a | snp |
is | mentioned by |
dbSNP | rs782058451 |
dbSNP (classic) | rs782058451 |
ClinGen | rs782058451 |
ebi | rs782058451 |
HLI | rs782058451 |
Exac | rs782058451 |
Gnomad | rs782058451 |
Varsome | rs782058451 |
LitVar | rs782058451 |
Map | rs782058451 |
PheGenI | rs782058451 |
Biobank | rs782058451 |
1000 genomes | rs782058451 |
hgdp | rs782058451 |
ensembl | rs782058451 |
geneview | rs782058451 |
scholar | rs782058451 |
rs782058451 | |
pharmgkb | rs782058451 |
gwascentral | rs782058451 |
openSNP | rs782058451 |
23andMe | rs782058451 |
SNPshot | rs782058451 |
SNPdbe | rs782058451 |
MSV3d | rs782058451 |
GWAS Ctlg | rs782058451 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs782058451(C;C) |
Alt | rs782058451(C;C) |
Reference | Rs782058451(T;T) |
Significance | Probable-Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy not specified |
Variation | info |
Gene | JUP |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy not specified |
Reversed | 0 |
HGVS | NC_000017.10:g.39923638T>C |
CLNSRC | |
CLNACC | RCV000208313.1, RCV000213286.1, |