rs199473111
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199473111(A;A) |
Make rs199473111(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 38606007 |
Gene | SCN5A |
is a | snp |
is | mentioned by |
dbSNP | rs199473111 |
dbSNP (classic) | rs199473111 |
ClinGen | rs199473111 |
ebi | rs199473111 |
HLI | rs199473111 |
Exac | rs199473111 |
Gnomad | rs199473111 |
Varsome | rs199473111 |
LitVar | rs199473111 |
Map | rs199473111 |
PheGenI | rs199473111 |
Biobank | rs199473111 |
1000 genomes | rs199473111 |
hgdp | rs199473111 |
ensembl | rs199473111 |
geneview | rs199473111 |
scholar | rs199473111 |
rs199473111 | |
pharmgkb | rs199473111 |
gwascentral | rs199473111 |
openSNP | rs199473111 |
23andMe | rs199473111 |
SNPshot | rs199473111 |
SNPdbe | rs199473111 |
MSV3d | rs199473111 |
GWAS Ctlg | rs199473111 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199473111(A;A) |
Alt | rs199473111(A;A) |
Reference | Rs199473111(G;G) |
Significance | Pathogenic |
Disease | Atrial fibrillation Atrial fibrillation not specified |
Variation | info |
Gene | SCN5A |
CLNDBN | Atrial fibrillation, familial, 10 Atrial fibrillation not specified |
Reversed | 1 |
HGVS | NC_000003.11:g.38647498C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000022950.4, RCV000058411.3, RCV000148855.1, RCV000182967.3, |
[PMID 18378609] Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation.