rs45563942
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs45563942(C;C) |
Make rs45563942(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 38550865 |
Gene | SCN5A |
is a | snp |
is | mentioned by |
dbSNP | rs45563942 |
dbSNP (classic) | rs45563942 |
ClinGen | rs45563942 |
ebi | rs45563942 |
HLI | rs45563942 |
Exac | rs45563942 |
Gnomad | rs45563942 |
Varsome | rs45563942 |
LitVar | rs45563942 |
Map | rs45563942 |
PheGenI | rs45563942 |
Biobank | rs45563942 |
1000 genomes | rs45563942 |
hgdp | rs45563942 |
ensembl | rs45563942 |
geneview | rs45563942 |
scholar | rs45563942 |
rs45563942 | |
pharmgkb | rs45563942 |
gwascentral | rs45563942 |
openSNP | rs45563942 |
23andMe | rs45563942 |
SNPshot | rs45563942 |
SNPdbe | rs45563942 |
MSV3d | rs45563942 |
GWAS Ctlg | rs45563942 |
GMAF | 0.001837 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs45563942(C;C) |
Alt | rs45563942(C;C) |
Reference | Rs45563942(T;T) |
Significance | Pathogenic |
Disease | Dilated cardiomyopathy 1E not provided Primary dilated cardiomyopathy not specified Brugada syndrome |
Variation | info |
Gene | SCN5A |
CLNDBN | Dilated cardiomyopathy 1E not provided Primary dilated cardiomyopathy not specified Brugada syndrome |
Reversed | 1 |
HGVS | NC_000003.11:g.38592356A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032640.3, RCV000058788.5, RCV000148847.1, RCV000212993.2, RCV000458526.1, |