rs200034939
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs200034939(A;A) |
Make rs200034939(A;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 38557248 |
Gene | SCN5A |
is a | snp |
is | mentioned by |
dbSNP | rs200034939 |
dbSNP (classic) | rs200034939 |
ClinGen | rs200034939 |
ebi | rs200034939 |
HLI | rs200034939 |
Exac | rs200034939 |
Gnomad | rs200034939 |
Varsome | rs200034939 |
LitVar | rs200034939 |
Map | rs200034939 |
PheGenI | rs200034939 |
Biobank | rs200034939 |
1000 genomes | rs200034939 |
hgdp | rs200034939 |
ensembl | rs200034939 |
geneview | rs200034939 |
scholar | rs200034939 |
rs200034939 | |
pharmgkb | rs200034939 |
gwascentral | rs200034939 |
openSNP | rs200034939 |
23andMe | rs200034939 |
SNPshot | rs200034939 |
SNPdbe | rs200034939 |
MSV3d | rs200034939 |
GWAS Ctlg | rs200034939 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200034939(A;A) |
Alt | rs200034939(A;A) |
Reference | Rs200034939(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified not provided Brugada syndrome |
Variation | info |
Gene | SCN5A |
CLNDBN | not specified not provided Brugada syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.38598739C>A |
CLNSRC | |
CLNACC | RCV000155812.1, RCV000183069.3, RCV000199660.1, |