rs483353016
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Brugada Syndrome |
(G;G) | 0 | common in clinvar |
Make rs483353016(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 38562414 |
Gene | SCN5A |
is a | snp |
is | mentioned by |
dbSNP | rs483353016 |
dbSNP (classic) | rs483353016 |
ClinGen | rs483353016 |
ebi | rs483353016 |
HLI | rs483353016 |
Exac | rs483353016 |
Gnomad | rs483353016 |
Varsome | rs483353016 |
LitVar | rs483353016 |
Map | rs483353016 |
PheGenI | rs483353016 |
Biobank | rs483353016 |
1000 genomes | rs483353016 |
hgdp | rs483353016 |
ensembl | rs483353016 |
geneview | rs483353016 |
scholar | rs483353016 |
rs483353016 | |
pharmgkb | rs483353016 |
gwascentral | rs483353016 |
openSNP | rs483353016 |
23andMe | rs483353016 |
SNPshot | rs483353016 |
SNPdbe | rs483353016 |
MSV3d | rs483353016 |
GWAS Ctlg | rs483353016 |
Merged from | Rs768579561 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs483353016(A;A) |
Alt | rs483353016(A;A) |
Reference | Rs483353016(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided Brugada syndrome |
Variation | info |
Gene | SCN5A |
CLNDBN | not provided Brugada syndrome |
Reversed | 1 |
HGVS | NC_000003.11:g.38603905C>T |
CLNSRC | |
CLNACC | RCV000149447.1, RCV000155938.1, |