rs397514449
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;TGA) | 5 | Romano-Ward Long QT Syndrome |
Make rs397514449(TGA;TGA) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 38550984 |
Gene | SCN5A |
is a | snp |
is | mentioned by |
dbSNP | rs397514449 |
dbSNP (classic) | rs397514449 |
ClinGen | rs397514449 |
ebi | rs397514449 |
HLI | rs397514449 |
Exac | rs397514449 |
Gnomad | rs397514449 |
Varsome | rs397514449 |
LitVar | rs397514449 |
Map | rs397514449 |
PheGenI | rs397514449 |
Biobank | rs397514449 |
1000 genomes | rs397514449 |
hgdp | rs397514449 |
ensembl | rs397514449 |
geneview | rs397514449 |
scholar | rs397514449 |
rs397514449 | |
pharmgkb | rs397514449 |
gwascentral | rs397514449 |
openSNP | rs397514449 |
23andMe | rs397514449 |
SNPshot | rs397514449 |
SNPdbe | rs397514449 |
MSV3d | rs397514449 |
GWAS Ctlg | rs397514449 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs397514449(TGA;TGA) |
Alt | rs397514449(TGA;TGA) |
Reference | Rs397514449(-;-) |
Significance | Pathogenic |
Disease | Long QT syndrome 3 Brugada syndrome 1 |
Variation | info |
Gene | SCN5A |
CLNDBN | Long QT syndrome 3 Brugada syndrome 1 |
Reversed | 1 |
HGVS | NC_000003.11:g.38592476_38592478dupTCA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009979.5, RCV000009980.5, |