rs146848219
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs146848219(C;T) |
Make rs146848219(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 38604004 |
Gene | SCN5A |
is a | snp |
is | mentioned by |
dbSNP | rs146848219 |
dbSNP (classic) | rs146848219 |
ClinGen | rs146848219 |
ebi | rs146848219 |
HLI | rs146848219 |
Exac | rs146848219 |
Gnomad | rs146848219 |
Varsome | rs146848219 |
LitVar | rs146848219 |
Map | rs146848219 |
PheGenI | rs146848219 |
Biobank | rs146848219 |
1000 genomes | rs146848219 |
hgdp | rs146848219 |
ensembl | rs146848219 |
geneview | rs146848219 |
scholar | rs146848219 |
rs146848219 | |
pharmgkb | rs146848219 |
gwascentral | rs146848219 |
openSNP | rs146848219 |
23andMe | rs146848219 |
SNPshot | rs146848219 |
SNPdbe | rs146848219 |
MSV3d | rs146848219 |
GWAS Ctlg | rs146848219 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs146848219(T;T) |
Alt | rs146848219(T;T) |
Reference | Rs146848219(C;C) |
Significance | Probable-Pathogenic |
Disease | Brugada syndrome not specified Paroxysmal familial ventricular fibrillation Romano-Ward syndrome Progressive familial heart block Dilated Cardiomyopathy Long QT syndrome Sick sinus syndrome |
Variation | info |
Gene | SCN5A |
CLNDBN | Brugada syndrome not specified Paroxysmal familial ventricular fibrillation Romano-Ward syndrome Progressive familial heart block Dilated Cardiomyopathy, Dominant Long QT syndrome Sick sinus syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.38645495C>T |
CLNSRC | |
CLNACC | RCV000157479.3, RCV000182980.3, RCV000269424.1, RCV000272892.1, RCV000277355.1, RCV000308105.1, RCV000365101.1, RCV000388106.1, |