rs72549410
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Romano-Ward Long QT Syndrome |
(G;G) | 0 | common in clinvar |
Make rs72549410(A;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 38606058 |
Gene | SCN5A |
is a | snp |
is | mentioned by |
dbSNP | rs72549410 |
dbSNP (classic) | rs72549410 |
ClinGen | rs72549410 |
ebi | rs72549410 |
HLI | rs72549410 |
Exac | rs72549410 |
Gnomad | rs72549410 |
Varsome | rs72549410 |
LitVar | rs72549410 |
Map | rs72549410 |
PheGenI | rs72549410 |
Biobank | rs72549410 |
1000 genomes | rs72549410 |
hgdp | rs72549410 |
ensembl | rs72549410 |
geneview | rs72549410 |
scholar | rs72549410 |
rs72549410 | |
pharmgkb | rs72549410 |
gwascentral | rs72549410 |
openSNP | rs72549410 |
23andMe | rs72549410 |
SNPshot | rs72549410 |
SNPdbe | rs72549410 |
MSV3d | rs72549410 |
GWAS Ctlg | rs72549410 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs72549410(A;A) |
Alt | rs72549410(A;A) |
Reference | Rs72549410(G;G) |
Significance | Pathogenic |
Disease | Congenital long QT syndrome Long QT syndrome not provided Brugada syndrome Long QT syndrome 3 |
Variation | info |
Gene | SCN5A |
CLNDBN | Congenital long QT syndrome Long QT syndrome not provided Brugada syndrome Long QT syndrome 3 |
Reversed | 1 |
HGVS | NC_000003.11:g.38647549C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000058408.3, RCV000157478.1, RCV000182964.4, RCV000197436.3, RCV000234790.1, |