rs138049878
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs138049878(A;A) |
Make rs138049878(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 23424840 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs138049878 |
dbSNP (classic) | rs138049878 |
ClinGen | rs138049878 |
ebi | rs138049878 |
HLI | rs138049878 |
Exac | rs138049878 |
Gnomad | rs138049878 |
Varsome | rs138049878 |
LitVar | rs138049878 |
Map | rs138049878 |
PheGenI | rs138049878 |
Biobank | rs138049878 |
1000 genomes | rs138049878 |
hgdp | rs138049878 |
ensembl | rs138049878 |
geneview | rs138049878 |
scholar | rs138049878 |
rs138049878 | |
pharmgkb | rs138049878 |
gwascentral | rs138049878 |
openSNP | rs138049878 |
23andMe | rs138049878 |
SNPshot | rs138049878 |
SNPdbe | rs138049878 |
MSV3d | rs138049878 |
GWAS Ctlg | rs138049878 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138049878(A;A) |
Alt | rs138049878(A;A) |
Reference | Rs138049878(G;G) |
Significance | Probable-Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy not specified not provided |
Variation | info |
Gene | MYH7 |
CLNDBN | Primary familial hypertrophic cardiomyopathy not specified not provided |
Reversed | 0 |
HGVS | NC_000014.8:g.23894049G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000148707.1, RCV000154258.2, RCV000158554.1, |