rs147205617
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs147205617(C;T) |
Make rs147205617(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 123642563 |
Gene | SCN3B |
is a | snp |
is | mentioned by |
dbSNP | rs147205617 |
dbSNP (classic) | rs147205617 |
ClinGen | rs147205617 |
ebi | rs147205617 |
HLI | rs147205617 |
Exac | rs147205617 |
Gnomad | rs147205617 |
Varsome | rs147205617 |
LitVar | rs147205617 |
Map | rs147205617 |
PheGenI | rs147205617 |
Biobank | rs147205617 |
1000 genomes | rs147205617 |
hgdp | rs147205617 |
ensembl | rs147205617 |
geneview | rs147205617 |
scholar | rs147205617 |
rs147205617 | |
pharmgkb | rs147205617 |
gwascentral | rs147205617 |
openSNP | rs147205617 |
23andMe | rs147205617 |
SNPshot | rs147205617 |
SNPdbe | rs147205617 |
MSV3d | rs147205617 |
GWAS Ctlg | rs147205617 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs147205617(T;T) |
Alt | rs147205617(T;T) |
Reference | Rs147205617(C;C) |
Significance | Pathogenic |
Disease | not provided not specified Death in infancy Brugada syndrome 7 |
Variation | info |
Gene | SCN3B |
CLNDBN | not provided not specified Death in infancy Brugada syndrome 7 |
Reversed | 0 |
HGVS | NC_000011.9:g.123513271C>T |
CLNSRC | |
CLNACC | RCV000171068.3, RCV000185522.2, RCV000234992.1, RCV000467448.1, |