rs752824646
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs752824646(C;T) |
Make rs752824646(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 38609881 |
Gene | SCN5A |
is a | snp |
is | mentioned by |
dbSNP | rs752824646 |
dbSNP (classic) | rs752824646 |
ClinGen | rs752824646 |
ebi | rs752824646 |
HLI | rs752824646 |
Exac | rs752824646 |
Gnomad | rs752824646 |
Varsome | rs752824646 |
LitVar | rs752824646 |
Map | rs752824646 |
PheGenI | rs752824646 |
Biobank | rs752824646 |
1000 genomes | rs752824646 |
hgdp | rs752824646 |
ensembl | rs752824646 |
geneview | rs752824646 |
scholar | rs752824646 |
rs752824646 | |
pharmgkb | rs752824646 |
gwascentral | rs752824646 |
openSNP | rs752824646 |
23andMe | rs752824646 |
SNPshot | rs752824646 |
SNPdbe | rs752824646 |
MSV3d | rs752824646 |
GWAS Ctlg | rs752824646 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs752824646(T;T) |
Alt | rs752824646(T;T) |
Reference | Rs752824646(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified Progressive familial heart block Romano-Ward syndrome Paroxysmal familial ventricular fibrillation Sick sinus syndrome Brugada syndrome Long QT syndrome Dilated Cardiomyopathy |
Variation | info |
Gene | SCN5A |
CLNDBN | not specified Progressive familial heart block Romano-Ward syndrome Paroxysmal familial ventricular fibrillation Sick sinus syndrome Brugada syndrome Long QT syndrome Dilated Cardiomyopathy, Dominant |
Reversed | 0 |
HGVS | NC_000003.11:g.38651372C>T |
CLNSRC | |
CLNACC | RCV000182947.2, RCV000279922.1, RCV000294829.1, RCV000319650.1, RCV000334721.1, RCV000349715.1, RCV000374434.1, RCV000389273.1, |