rs727504495
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs727504495(A;A) |
Make rs727504495(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 38550998 |
Gene | SCN5A |
is a | snp |
is | mentioned by |
dbSNP | rs727504495 |
dbSNP (classic) | rs727504495 |
ClinGen | rs727504495 |
ebi | rs727504495 |
HLI | rs727504495 |
Exac | rs727504495 |
Gnomad | rs727504495 |
Varsome | rs727504495 |
LitVar | rs727504495 |
Map | rs727504495 |
PheGenI | rs727504495 |
Biobank | rs727504495 |
1000 genomes | rs727504495 |
hgdp | rs727504495 |
ensembl | rs727504495 |
geneview | rs727504495 |
scholar | rs727504495 |
rs727504495 | |
pharmgkb | rs727504495 |
gwascentral | rs727504495 |
openSNP | rs727504495 |
23andMe | rs727504495 |
SNPshot | rs727504495 |
SNPdbe | rs727504495 |
MSV3d | rs727504495 |
GWAS Ctlg | rs727504495 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504495(A;A) |
Alt | rs727504495(A;A) |
Reference | Rs727504495(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified Brugada syndrome |
Variation | info |
Gene | SCN5A |
CLNDBN | not specified Brugada syndrome |
Reversed | 1 |
HGVS | NC_000003.11:g.38592489C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000155630.3, RCV000472453.1, |