rs267606977
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 6.2 | Familial Hypertrophic Cardiomyopathy |
Make rs267606977(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 151560613 |
Gene | PRKAG2 |
is a | snp |
is | mentioned by |
dbSNP | rs267606977 |
dbSNP (classic) | rs267606977 |
ClinGen | rs267606977 |
ebi | rs267606977 |
HLI | rs267606977 |
Exac | rs267606977 |
Gnomad | rs267606977 |
Varsome | rs267606977 |
LitVar | rs267606977 |
Map | rs267606977 |
PheGenI | rs267606977 |
Biobank | rs267606977 |
1000 genomes | rs267606977 |
hgdp | rs267606977 |
ensembl | rs267606977 |
geneview | rs267606977 |
scholar | rs267606977 |
rs267606977 | |
pharmgkb | rs267606977 |
gwascentral | rs267606977 |
openSNP | rs267606977 |
23andMe | rs267606977 |
SNPshot | rs267606977 |
SNPdbe | rs267606977 |
MSV3d | rs267606977 |
GWAS Ctlg | rs267606977 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs267606977(G;G) |
Alt | rs267606977(G;G) |
Reference | Rs267606977(A;A) |
Significance | Pathogenic |
Disease | Familial hypertrophic cardiomyopathy 6 not provided |
Variation | info |
Gene | PRKAG2 |
CLNDBN | Familial hypertrophic cardiomyopathy 6 not provided |
Reversed | 1 |
HGVS | NC_000007.13:g.151257699T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007257.4, RCV000159018.1, |