rs730882148
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs730882148(C;C) |
Make rs730882148(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 151568798 |
Gene | PRKAG2 |
is a | snp |
is | mentioned by |
dbSNP | rs730882148 |
dbSNP (classic) | rs730882148 |
ClinGen | rs730882148 |
ebi | rs730882148 |
HLI | rs730882148 |
Exac | rs730882148 |
Gnomad | rs730882148 |
Varsome | rs730882148 |
LitVar | rs730882148 |
Map | rs730882148 |
PheGenI | rs730882148 |
Biobank | rs730882148 |
1000 genomes | rs730882148 |
hgdp | rs730882148 |
ensembl | rs730882148 |
geneview | rs730882148 |
scholar | rs730882148 |
rs730882148 | |
pharmgkb | rs730882148 |
gwascentral | rs730882148 |
openSNP | rs730882148 |
23andMe | rs730882148 |
SNPshot | rs730882148 |
SNPdbe | rs730882148 |
MSV3d | rs730882148 |
GWAS Ctlg | rs730882148 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730882148(C;C) |
Alt | rs730882148(C;C) |
Reference | Rs730882148(G;G) |
Significance | Pathogenic |
Disease | Glycogen storage disease of heart |
Variation | info |
Gene | PRKAG2 |
CLNDBN | Glycogen storage disease of heart, lethal congenital |
Reversed | 1 |
HGVS | NC_000007.13:g.151265884C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000162026.4, |