rs397517264
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397517264(A;A) |
Make rs397517264(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 151565729 |
Gene | PRKAG2 |
is a | snp |
is | mentioned by |
dbSNP | rs397517264 |
dbSNP (classic) | rs397517264 |
ClinGen | rs397517264 |
ebi | rs397517264 |
HLI | rs397517264 |
Exac | rs397517264 |
Gnomad | rs397517264 |
Varsome | rs397517264 |
LitVar | rs397517264 |
Map | rs397517264 |
PheGenI | rs397517264 |
Biobank | rs397517264 |
1000 genomes | rs397517264 |
hgdp | rs397517264 |
ensembl | rs397517264 |
geneview | rs397517264 |
scholar | rs397517264 |
rs397517264 | |
pharmgkb | rs397517264 |
gwascentral | rs397517264 |
openSNP | rs397517264 |
23andMe | rs397517264 |
SNPshot | rs397517264 |
SNPdbe | rs397517264 |
MSV3d | rs397517264 |
GWAS Ctlg | rs397517264 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397517264(A;A) |
Alt | rs397517264(A;A) |
Reference | Rs397517264(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified Primary familial hypertrophic cardiomyopathy Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome Glycogen storage disease of heart Wolff-Parkinson-White syndrome |
Variation | info |
Gene | PRKAG2 |
CLNDBN | not specified Primary familial hypertrophic cardiomyopathy Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome Glycogen storage disease of heart, lethal congenital Wolff-Parkinson-White syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.151262815C>T |
CLNSRC | ClinVar |
CLNACC | RCV000038916.5, RCV000208297.1, RCV000284911.1, RCV000338704.1, RCV000377013.1, |