rs397514252
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;AA) | 6 | Brugada Syndrome |
Make rs397514252(AA;AA) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 38620838 |
Gene | SCN5A |
is a | snp |
is | mentioned by |
dbSNP | rs397514252 |
dbSNP (classic) | rs397514252 |
ClinGen | rs397514252 |
ebi | rs397514252 |
HLI | rs397514252 |
Exac | rs397514252 |
Gnomad | rs397514252 |
Varsome | rs397514252 |
LitVar | rs397514252 |
Map | rs397514252 |
PheGenI | rs397514252 |
Biobank | rs397514252 |
1000 genomes | rs397514252 |
hgdp | rs397514252 |
ensembl | rs397514252 |
geneview | rs397514252 |
scholar | rs397514252 |
rs397514252 | |
pharmgkb | rs397514252 |
gwascentral | rs397514252 |
openSNP | rs397514252 |
23andMe | rs397514252 |
SNPshot | rs397514252 |
SNPdbe | rs397514252 |
MSV3d | rs397514252 |
GWAS Ctlg | rs397514252 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs397514252(AA;AA) |
Alt | rs397514252(AA;AA) |
Reference | Rs397514252(-;-) |
Significance | Pathogenic |
Disease | Brugada syndrome 1 |
Variation | info |
Gene | SCN5A |
CLNDBN | Brugada syndrome 1 |
Reversed | 1 |
HGVS | NC_000003.11:g.38662330_38662331dupTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009966.6, |