rs199473634
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199473634(C;T) |
Make rs199473634(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 38551036 |
Gene | SCN5A |
is a | snp |
is | mentioned by |
dbSNP | rs199473634 |
dbSNP (classic) | rs199473634 |
ClinGen | rs199473634 |
ebi | rs199473634 |
HLI | rs199473634 |
Exac | rs199473634 |
Gnomad | rs199473634 |
Varsome | rs199473634 |
LitVar | rs199473634 |
Map | rs199473634 |
PheGenI | rs199473634 |
Biobank | rs199473634 |
1000 genomes | rs199473634 |
hgdp | rs199473634 |
ensembl | rs199473634 |
geneview | rs199473634 |
scholar | rs199473634 |
rs199473634 | |
pharmgkb | rs199473634 |
gwascentral | rs199473634 |
openSNP | rs199473634 |
23andMe | rs199473634 |
SNPshot | rs199473634 |
SNPdbe | rs199473634 |
MSV3d | rs199473634 |
GWAS Ctlg | rs199473634 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199473634(T;T) |
Alt | rs199473634(T;T) |
Reference | Rs199473634(C;C) |
Significance | Pathogenic |
Disease | Congenital long QT syndrome Long QT syndrome not provided Brugada syndrome |
Variation | info |
Gene | SCN5A |
CLNDBN | Congenital long QT syndrome Long QT syndrome not provided Brugada syndrome |
Reversed | 1 |
HGVS | NC_000003.11:g.38592527G>A |
CLNSRC | ClinVar University of Washington |
CLNACC | RCV000058771.3, RCV000148849.1, RCV000183115.2, RCV000469805.1, |