rs587776643
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;TTA) | 6.2 | Familial Hypertrophic Cardiomyopathy |
Make rs587776643(-;TAA) |
Make rs587776643(TAA;TAA) |
Reference | GRCh38 38.1/142 |
Chromosome | 7 |
Position | 151572664 |
Gene | PRKAG2 |
is a | snp |
is | mentioned by |
dbSNP | rs587776643 |
dbSNP (classic) | rs587776643 |
ClinGen | rs587776643 |
ebi | rs587776643 |
HLI | rs587776643 |
Exac | rs587776643 |
Gnomad | rs587776643 |
Varsome | rs587776643 |
LitVar | rs587776643 |
Map | rs587776643 |
PheGenI | rs587776643 |
Biobank | rs587776643 |
1000 genomes | rs587776643 |
hgdp | rs587776643 |
ensembl | rs587776643 |
geneview | rs587776643 |
scholar | rs587776643 |
rs587776643 | |
pharmgkb | rs587776643 |
gwascentral | rs587776643 |
openSNP | rs587776643 |
23andMe | rs587776643 |
SNPshot | rs587776643 |
SNPdbe | rs587776643 |
MSV3d | rs587776643 |
GWAS Ctlg | rs587776643 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs587776643(TAA;TAA) |
Alt | rs587776643(TAA;TAA) |
Reference | Rs587776643(-;-) |
Significance | Pathogenic |
Disease | Familial hypertrophic cardiomyopathy 6 |
Variation | info |
Gene | PRKAG2 |
CLNDBN | Familial hypertrophic cardiomyopathy 6 |
Reversed | 1 |
HGVS | NC_000007.13:g.151269750_151269751insTAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007251.3, |