rs370694515
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs370694515(C;T) |
Make rs370694515(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 38550679 |
Gene | SCN5A |
is a | snp |
is | mentioned by |
dbSNP | rs370694515 |
dbSNP (classic) | rs370694515 |
ClinGen | rs370694515 |
ebi | rs370694515 |
HLI | rs370694515 |
Exac | rs370694515 |
Gnomad | rs370694515 |
Varsome | rs370694515 |
LitVar | rs370694515 |
Map | rs370694515 |
PheGenI | rs370694515 |
Biobank | rs370694515 |
1000 genomes | rs370694515 |
hgdp | rs370694515 |
ensembl | rs370694515 |
geneview | rs370694515 |
scholar | rs370694515 |
rs370694515 | |
pharmgkb | rs370694515 |
gwascentral | rs370694515 |
openSNP | rs370694515 |
23andMe | rs370694515 |
SNPshot | rs370694515 |
SNPdbe | rs370694515 |
MSV3d | rs370694515 |
GWAS Ctlg | rs370694515 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370694515(T;T) |
Alt | rs370694515(T;T) |
Reference | Rs370694515(C;C) |
Significance | Pathogenic |
Disease | not specified Long QT syndrome 3 Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia/cardiomyopathy |
Variation | info |
Gene | SCN5A |
CLNDBN | not specified Long QT syndrome 3 Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia/cardiomyopathy |
Reversed | 0 |
HGVS | NC_000003.11:g.38592170C>T |
CLNSRC | |
CLNACC | RCV000216249.1, RCV000234809.1, RCV000247589.1, RCV000466757.1, |