rs193922726
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs193922726(C;T) |
Make rs193922726(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 38551188 |
Gene | SCN5A |
is a | snp |
is | mentioned by |
dbSNP | rs193922726 |
dbSNP (classic) | rs193922726 |
ClinGen | rs193922726 |
ebi | rs193922726 |
HLI | rs193922726 |
Exac | rs193922726 |
Gnomad | rs193922726 |
Varsome | rs193922726 |
LitVar | rs193922726 |
Map | rs193922726 |
PheGenI | rs193922726 |
Biobank | rs193922726 |
1000 genomes | rs193922726 |
hgdp | rs193922726 |
ensembl | rs193922726 |
geneview | rs193922726 |
scholar | rs193922726 |
rs193922726 | |
pharmgkb | rs193922726 |
gwascentral | rs193922726 |
openSNP | rs193922726 |
23andMe | rs193922726 |
SNPshot | rs193922726 |
SNPdbe | rs193922726 |
MSV3d | rs193922726 |
GWAS Ctlg | rs193922726 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922726(G;G) rs193922726(T;T) |
Alt | rs193922726(G;G) rs193922726(T;T) |
Reference | Rs193922726(C;C) |
Significance | Probable-non-pathogenic |
Disease | Cardiomyopathy Brugada syndrome |
Variation | info |
Gene | SCN5A |
CLNDBN | Cardiomyopathy Brugada syndrome |
Reversed | 1 |
HGVS | NC_000003.11:g.38592679G>A; NC_000003.11:g.38592679G>C |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030443.1, RCV000058750.2, |